{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/a144e629-27a6-411b-9541-dd30a4ea5262/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637573", "label": "ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2", "type": "VariantPathogenicityInterpretationGuideline", "url": "https://clinicalgenome.org/docs/clingen-familial-hypercholesterolemia-expert-panel-specifications-to-the-acmg-amp-variant-interpretation-guidelines-version-1-2/", "version": "1.2.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0007750", "id": "MONDO:0007750", "label": "hypercholesterolemia, familial", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1798", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1799", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1798/1800", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "This variant is absent from gnomAD (gnomAD v2.1.1).", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1798/1800", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1799", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1798", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1678", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1679", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "Variant segregates with FH phenotype in 1 (less than 2) informative meiosis, one affected relative tested positive for the variant from 1 family, reported in PMID 14974088 by Dedoussis et al, 2004, from Harokopio University of Athens, Greece.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1678", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1747", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1748", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1747/1749", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "REVEL=0.69, it is not above 0.75, splicing evaluation required. MES: A) Variant not on limits. B) Variant not on limit creating de novo acceptor; variant on limit and created GT, Var de novo score/Wt score = -18.11/10.28 = -1.76, which is less than 0.8. C) There is not a GT nearby. Variant is not predicted to alter splicing, and result is confirmed by SpliceAI. REVEL score for the variant is between 0.5 and 0.75, therefore PP3/BP4 is not met.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1634", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "Variant meets PM2, and is identified in >1 index cases who fulfil FH criteria after alternative causes of high cholesterol were excluded.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1633", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1606", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1607", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1606/1608", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "Variant meets PM2, and is identified in 5 unrelated index cases fulfil FH criteria. Three cases fulfil DLCN ≥6 reported in VCI by Service de Biochimie et de Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France. Two cases fulfil Simon Broome criteria, one case reported in VCI by Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies (APHP. Sorbonne Université, Hospital de la Pitié-Salpêtrière); one case reported in PMID 14974088 by Dedoussis et al, 2004, from Harokopio University of Athens, Greece.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1606/1608", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1607", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1606", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "Three other missense variants in the same codon: NM_000527.5 (LDLR):c.1958T>G (p.Val653Gly) (ClinVar ID 252130), classified as VUS; NM_000527.5 (LDLR):c.1957G>A (p.Val653Ile) (ClinVar ID 628891), classified as VUS; NM_000527.5 (LDLR):c.1958_1959delinsCC (p.Val653Ala) (ClinVar ID 1008168), classified as VUS by these guidelines, therefore PM5 is not met.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "REVEL=0.69, it is not above 0.75, splicing evaluation required. MES: A) Variant not on limits. B) Variant not on limit creating de novo acceptor; variant on limit and created GT, Var de novo score/Wt score = -18.11/10.28 = -1.76, which is less than 0.8. C) There is not a GT nearby. Variant is not predicted to alter splicing, and result is confirmed by SpliceAI. REVEL score for the variant is between 0.5 and 0.75, therefore PP3/BP4 is not met.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1597", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1598", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1597/1599", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "Variant identified in a patient with heterozygous FH phenotype who also carries NM_000527.5 (LDLR):c.1171G>A (p.Ala391Thr) and confirmed in trans. However LDLR: p.A391T is classified as Benign by these guidelines, therefore BP2 is not met. This index case is reported in PMID 14974088 by Dedoussis et al, 2004, from Harokopio University of Athens, Greece.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1597", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1828", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/ei/1/1829", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "contributionDate": { "date": "2025/9/15", "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" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10585695/MONDO:0007750/013/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50004_EP162454503244642", "id": "CG-PCER-AGENT:CG_50004_EP162454503244642", "type": "Agent" }, "comments": "Functional data not available.", "contributionDate": { "date": "2025/9/15", "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": "CA10585695/MONDO:0007750/013/ci/CA10585695/MONDO:0007750/013.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013/0/1828", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA10585695/MONDO:0007750/013", "metadata": { "created": "2025-09-15T06:08:57.606Z", "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": "Mon, 15 Sep 2025 06:08:57 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "a144e629-27a6-411b-9541-dd30a4ea5262", "variant": { "@id": "https://reg.genome.network/allele/CA10585695", "id": "CAR:CA10585695", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000527.5:c.1957G>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000527.5(LDLR):c.1957G>T (p.Val653Phe)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T23:55:36.242Z" } }, "status": { "code": 200, "name": "OK" } }