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]

x This classification has been retracted/unpublished!

Variant: NM_001354304.2:c.977G>C

Curation Version - 1.1
Curation History
JSON LD for Version 1.1

CA16020913

1327560 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 9f5f4825-ebcd-40b8-83e0-0cdfe6a937d0

Approved on: 2020-12-25

Published on: 2024-09-06

HGVS expressions

NM_001354304.2:c.977G>C

NC_000012.12:g.102844424C>G

CM000674.2:g.102844424C>G

NC_000012.11:g.103238202C>G

CM000674.1:g.103238202C>G

NC_000012.10:g.101762332C>G

NG_008690.1:g.78179G>C

NG_008690.2:g.118987G>C

ENST00000553106.6:c.977G>C

ENST00000307000.7:c.962G>C

ENST00000549247.6:n.736G>C

ENST00000551114.2:n.639G>C

ENST00000553106.5:c.977G>C

ENST00000635477.1:c.81G>C

ENST00000635528.1:n.492G>C

NM_000277.1:c.977G>C

NM_000277.2:c.977G>C

NM_001354304.1:c.977G>C

NM_000277.3:c.977G>C

Uncertain Significance

PP3 PM2

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The NM_000277.3(PAH):c.977G>C (p.Trp326Ser) variant is a missense variant in exon 10/13 of PAH. The variant is listed in BioPKU (ID PAH0407) but does not appear to have been reported in the published literature. The variant is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). The variant is predicted damaging by multiple in-silico missense predictors, including REVEL (REVEL score 0.874) (PP3). Classification: VUS Supporting Criteria: PM2; PP3

PP3

All in silico predictors agree damaging

PM2

Not found in any population database

Curation History

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