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"defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0023", "label": "PP1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1648/1650", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000484", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Two siblings were cmp het for this variant and Thr4439Ile. The brother had Usher syndrome. The 43 year old sister had hearing loss and a slightly abnormal finding on ERG, but was otherwise normal.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000484", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/25521520", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000485", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "1 compound het proband with Arg1295X on remaining allele. Variants segregated in 3 affected relatives. 1 homozygous proband, variant segregated in 2 affected relatives.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000485", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24160897", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000483", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Asn346His variant was identified in 1 proband with USH2, compound heterozygous with Gly4403fs variant", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000483", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/17405132", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000486", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "The Asn346His variant was identified in 1 proband in combination with a second loss of function allele c.1227G>A (p.Trp409X)", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000486", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15241801", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000470", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Four compound hets reported; variants on remaining allele were Thr4439Ile, Glu3305fs, Trp3521Arg, Cys419Phe. One individual was het only.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000470", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/22135276", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000471", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "The Asn346His variant was identified in 2 probands with USH2. It was observed in a large Swedish family with Arg1295X, but the two variants were not present in the same individuals. In an American family, it was compound heterozygous with another pathogenic variant 2299delG (Glu767fs). The cDNA coordinate (c.1042A>C = p.348) in this paper was wrong, but the alignment figure showed the variant matching N346H.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000471", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10729113", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1648/1650", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1649", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1648", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0070", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0070", "label": "BS1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "I agree. Variant is present in (20/126318) ) 0.00015% Europeans in gnomAD.\n-MD", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1804", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1768", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/ei/1/1769", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0071", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0071", "label": "BS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000484", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Two siblings were cmp het for this variant and Thr4439Ile. The brother had Usher syndrome. The 43 year old sister had hearing loss and a slightly abnormal finding on ERG, but was otherwise normal.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000484", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/25521520", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000485", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "1 compound het proband with Arg1295X on remaining allele. Variants segregated in 3 affected relatives. 1 homozygous proband, variant segregated in 2 affected relatives.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000485", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24160897", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000483", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Asn346His variant was identified in 1 proband with USH2, compound heterozygous with Gly4403fs variant", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000483", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/17405132", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000486", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "The Asn346His variant was identified in 1 proband in combination with a second loss of function allele c.1227G>A (p.Trp409X)", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000486", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15241801", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000470", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Four compound hets reported; variants on remaining allele were Thr4439Ile, Glu3305fs, Trp3521Arg, Cys419Phe. One individual was het only.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000470", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/22135276", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000471", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "The Asn346His variant was identified in 2 probands with USH2. It was observed in a large Swedish family with Arg1295X, but the two variants were not present in the same individuals. 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REVEL is >0.7\n-MD", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/ei/1/1634", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0063", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0063", "label": "PP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000484", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Two siblings were cmp het for this variant and Thr4439Ile. The brother had Usher syndrome. The 43 year old sister had hearing loss and a slightly abnormal finding on ERG, but was otherwise normal.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000484", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/25521520", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000486", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "The Asn346His variant was identified in 1 proband in combination with a second loss of function allele c.1227G>A (p.Trp409X).", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000486", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/15241801", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000483", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Asn346His variant was identified in 1 proband with USH2, compound heterozygous with Gly4403fs variant", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000483", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/17405132", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000485", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "1 compound het proband with Arg1295X on remaining allele. Variants segregated in 3 affected relatives. 1 homozygous proband, variant segregated in 2 affected relatives.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000485", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24160897", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000470", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "Usher syndrome type II", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000470", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/22135276", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/EV000000471", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "The Asn346His variant was identified in 2 probands with USH2. It was observed in a large Swedish family with Arg1295X, but the two variants were not present in the same individuals. In an American family, it was compound heterozygous with another pathogenic variant 2299delG (Glu767fs). The cDNA coordinate (c.1042A>C = p.348) in this paper was wrong, but the alignment figure showed the variant matching N346H.", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000471", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/10729113", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1702", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/ei/1/1703", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0069", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000328", "id": "SEPIO:0000328", "label": "Benign Strong" }, "id": "0069", "label": "BS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1636", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/ei/1/1637", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0030", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0030", "label": "PM2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "I agree. 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"date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/EV000000470", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/22135276", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0087", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000325", "id": "SEPIO:0000325", "label": "Benign Stand Alone" }, "id": "0087", "label": "BA1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA262054/MONDO:0019501/005/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50007_EP155190799758139", "id": "CG-PCER-AGENT:CG_50007_EP155190799758139", "type": "Agent" }, "comments": "I agree. Variant is present in (20/126318) ) 0.00015% Europeans in gnomAD.\n-MD", "contributionDate": { "date": "2019/7/17", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA262054/MONDO:0019501/005/ci/CA262054/MONDO:0019501/005.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA262054/MONDO:0019501/005", "metadata": { "created": "2024-09-27T19:43:12.681Z", "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.", "producedAtUTC": "Fri, 27 Sep 2024 19:43:12 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "211c3a9c-3789-42d9-ab55-04892c95f534", "variant": { "@id": "https://reg.genome.network/allele/CA262054", "id": "CAR:CA262054", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_206933.2:c.1036A>C" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_206933.2(USH2A):c.1036A>C (p.Asn346His)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-04T06:38:50.337Z" } }, "status": { "code": 200, "name": "OK" } }