Evidence Repository - Clinical Genome Resources

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

Link to SEPIO compliant JSON-LD document

CA16020939

619161 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ac26db6c-ecfb-4389-97ff-f8ad23eedd46

HGVS expressions

NM_000277.1:c.1100T>G

NC_000012.12:g.102843745A>C

CM000674.2:g.102843745A>C

NC_000012.11:g.103237523A>C

CM000674.1:g.103237523A>C

NC_000012.10:g.101761653A>C

NG_008690.1:g.78858T>G

NG_008690.2:g.119666T>G

NM_000277.2:c.1100T>G

NM_001354304.1:c.1100T>G

NM_000277.3:c.1100T>G

ENST00000307000.7:c.1085T>G

ENST00000549247.6:n.859T>G

ENST00000551114.2:n.762T>G

ENST00000553106.5:c.1100T>G

ENST00000635477.1:n.204T>G

ENST00000635528.1:n.615T>G

Uncertain Significance

PP3 PP4 PM2

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1100T>G (p.Leu367Arg) variant in PAH is reported in a Chinese patient with PKU. BH4 deficiencies were not assessed/reported. (PMID: 19915519) This variant is absent in population databases. It is predicted deleterious by PolyPhen-2, MutationTaster, and SIFT. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.

PP3

predicted deleterious/ damaging by PolyPhen, MutTaster, and Sift

PP4

Seen in a Chinese patient with PKU. BH4 deficiencies not assessed. PMID: 19915519

Seen in a patient with Chinese PKU. no other info provided. PubMed:19915519

PM2

Absent from controls.

Approved on: 2018-12-09

Published on: 2019-04-06

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