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]

Variant: NM_000277.1(PAH):c.676C>T (p.Gln226Ter)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229689

102782 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: cf8be392-5d45-4ad7-a5d9-c6af89fb7bd6

Approved on: 2020-04-05

Published on: 2020-04-06

HGVS expressions

NM_000277.1:c.676C>T

NM_000277.1(PAH):c.676C>T (p.Gln226Ter)

NM_000277.2:c.676C>T

NM_001354304.1:c.676C>T

NM_000277.3:c.676C>T

NM_001354304.2:c.676C>T

ENST00000307000.7:c.661C>T

ENST00000549111.5:n.772C>T

ENST00000553106.5:c.676C>T

NC_000012.12:g.102855166G>A

CM000674.2:g.102855166G>A

NC_000012.11:g.103248944G>A

CM000674.1:g.103248944G>A

NC_000012.10:g.101773074G>A

NG_008690.1:g.67437C>T

NG_008690.2:g.108245C>T

Likely Pathogenic

PM2 PVS1

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.676C>T (p.Gln226Ter) variant in PAH is a null variant (nonsense variant) in a gene where LOF is a known mechanism of disease, leading to premature truncation and NMD (PVS1). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It does not appear to have been reported in detail in the published literature, but has been noted in the BioPKU database (PMID: 24939588) and in Clinvar (Variation ID 102782), without further case-level information. Classification: Likely Pathogenic Supporting Criteria: PVS1, PM2

PM2

It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2).

PVS1

The c.676C>T (p.Gln226Ter) variant in PAH is a null variant (nonsense variant) in a gene where LOF is a known mechanism of disease, leading to premature truncation and NMD (PVS1).

Curation History

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