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

CA16020955

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ea6df3b1-c828-4b5c-bffd-c7782b59f60c

HGVS expressions

NM_001354304.2:c.1166C>G

NC_000012.12:g.102843679G>C

CM000674.2:g.102843679G>C

NC_000012.11:g.103237457G>C

CM000674.1:g.103237457G>C

NC_000012.10:g.101761587G>C

NG_008690.1:g.78924C>G

NG_008690.2:g.119732C>G

NM_000277.1:c.1166C>G

NM_000277.2:c.1166C>G

NM_001354304.1:c.1166C>G

NM_000277.3:c.1166C>G

ENST00000307000.7:c.1151C>G

ENST00000549247.6:n.925C>G

ENST00000551114.2:n.828C>G

ENST00000553106.5:c.1166C>G

ENST00000635477.1:n.270C>G

ENST00000635528.1:n.681C>G

Uncertain Significance

PP3 PM2

PP4 PM5

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1166C>G (p.Ala389Gly) variant in PAH has been reported in 1 non-English article that is not accessible. This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.954 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.

PP3

Variant predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.954.

PM2

Variant absent from population databases.

PP4

A389G reported in 1 non-English article that is not accessible. PMID: 17557229

PM5

At same codon as c.1166C>A (p.A389E) curated as VUS by ClinGen PAH VCEP.

Approved on: 2020-08-24

Published on: 2020-08-24

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