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

CA16020909

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 87ce016f-48fb-4d51-87bc-0796ed567d82

Approved on: 2020-05-15

Published on: 2020-05-15

HGVS expressions

NM_001354304.2:c.970-2A>G

NC_000012.12:g.102844433T>C

CM000674.2:g.102844433T>C

NC_000012.11:g.103238211T>C

CM000674.1:g.103238211T>C

NC_000012.10:g.101762341T>C

NG_008690.1:g.78170A>G

NG_008690.2:g.118978A>G

NM_000277.1:c.970-2A>G

NM_000277.2:c.970-2A>G

NM_001354304.1:c.970-2A>G

NM_000277.3:c.970-2A>G

ENST00000307000.7:c.955-2A>G

ENST00000549247.6:n.729-2A>G

ENST00000551114.2:n.632-2A>G

ENST00000553106.5:c.970-2A>G

ENST00000635477.1:n.74-2A>G

ENST00000635528.1:n.485-2A>G

Likely Pathogenic

PM2 PVS1_Strong

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.970-2A>G variant in PAH is a canonical splice-site variant predicted to lead to skipping of exon 10 (PVS1_Strong). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It has been previously reported in one case seen at an inborn errors of metabolism clinic; no further information appears to be given (PMID: 22106832). Classification: Likely Pathogenic Supporting Criteria: PVS1_Strong; PM2

PM2

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

PVS1_Strong

The c.970-2A>G variant in PAH is a canonical splice-site variant predicted to lead to skipping of exon 10 (PVS1_Strong).

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