Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • See Evidence submitted by expert panel for details.

Variant: NM_000277.2(PAH):c.1092_1094del (p.Leu365del)

CA229337

597 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 23e1d74c-aefc-440e-983d-80babb89c158
Approved on: 2019-05-04
Published on: 2019-05-04

HGVS expressions

NM_000277.2:c.1092_1094del
NM_000277.2(PAH):c.1092_1094del (p.Leu365del)
NC_000012.12:g.102843753_102843755del
CM000674.2:g.102843753_102843755del
NC_000012.11:g.103237531_103237533del
CM000674.1:g.103237531_103237533del
NC_000012.10:g.101761661_101761663del
NG_008690.1:g.78850_78852del
NG_008690.2:g.119658_119660del
NM_000277.1:c.1092_1094del
NM_001354304.1:c.1092_1094del
NM_000277.3:c.1092_1094del
ENST00000307000.7:c.1077_1079del
ENST00000549247.6:n.851_853del
ENST00000551114.2:n.754_756del
ENST00000553106.5:c.1092_1094del
ENST00000635477.1:n.196_198del
ENST00000635528.1:n.607_609del
More

Likely Pathogenic

Met criteria codes 4
PM2 PM4 PM3 PP4

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The c.1092_1094delTCT variant in PAH has been previously reported as a single variant, found in trans with the Pathogenic variant (per internal PAH ClinGen Working Group classification, see ClinVar allele ID 15635) p.Gly272Ter in one proband with classic PKU (PMID: 1975559); phase was confirmed via parental testing (PM3). Apart from stating that the proband was identified via newborn screening further detail is provided regarding the proband’s phenotype, including whether BH4 deficiency was formally excluded (PP4?). The variant is a protein-length changing variant in a non-repeat region (PM4). It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2).
Met criteria codes
PM2
It is absent from control databases including ethnically matched individuals, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2).
PM4
The variant is a protein-length changing variant in a non-repeat region (PM4).
PM3
The c.1092_1094delTCT variant in PAH has been previously reported as a single variant, found in trans with the Pathogenic variant (per internal PAH ClinGen Working Group classification, see ClinVar allele ID 15635) p.Gly272Ter in one proband with classic PKU (PMID: 1975559); phase was confirmed via parental testing (PM3).
The c.1092_1094delTCT variant in PAH has been previously reported as a single variant, found in trans with the Pathogenic variant (per internal PAH ClinGen Working Group classification, see ClinVar allele ID 15635) p.Gly272Ter in one proband with classic PKU (PMID: 1975559); phase was confirmed via parental testing (PM3). PubMed:1975559
PP4
Apart from stating that the proband was identified via newborn screening further detail is provided regarding the proband’s phenotype, including whether BH4 deficiency was formally excluded (PP4?).
Apart from stating that the proband was identified via newborn screening further detail is provided regarding the proband’s phenotype, including whether BH4 deficiency was formally excluded (PP4?). PubMed:1975559
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.