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

CA16020969

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 8b454f5c-1d87-40ac-a8b5-c62fe71d8c7b

HGVS expressions

NM_001354304.2:c.1204T>G

NM_000277.1:c.1204T>G

NM_000277.2:c.1204T>G

NM_001354304.1:c.1204T>G

NM_000277.3:c.1204T>G

ENST00000307000.7:c.1189T>G

ENST00000551114.2:n.866T>G

ENST00000553106.5:c.1204T>G

ENST00000635477.1:n.308T>G

ENST00000635528.1:n.719T>G

NC_000012.12:g.102840511A>C

CM000674.2:g.102840511A>C

NC_000012.11:g.103234289A>C

CM000674.1:g.103234289A>C

NC_000012.10:g.101758419A>C

NG_008690.1:g.82092T>G

NG_008690.2:g.122900T>G

Uncertain Significance

PP3 PM2

PP4 PM5 PM3

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1204T>G (p.Phe402Val) variant in PAH is currently unreported in the literature. This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTester, and REVEL = 0.973 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.

PP3

Predicted deleterious by SIFT, PolyPhen2, MutationTester, and REVEL = 0.973.

PM2

Variant absent from population databases.

PP4

This variant is currently unreported in the literature.

PM5

At same codon as c.1204T>A (p.F402I), c.1204T>C (p.F402L), and c.1205T>G (p.F402C) - all curated as VUS by ClinGen PAH VCEP.

PM3

This variant is currently unreported in the literature.

Approved on: 2020-08-27

Published on: 2020-08-27

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