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]

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Variant: NM_001354304.2:c.1232C>G

CA16020974

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 51e66f5c-8e31-4c4d-882d-42f5b2cb6d3a

Approved on: 2023-10-13

Published on: 2023-10-13

HGVS expressions

NM_001354304.2:c.1232C>G

Pathogenic

PP4 PM2_Supporting PM3_Supporting 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.1232C>G (p.Ser411Ter) variant in PAH is a nonsense variant in exon 12 of 13 predicted to lead to nonsense mediated decay. It was reported in a Brazilian patient with classic PKU, detected with pathogenic variant p.V388M (PMID: 11139255). This variant is absent in gnomAD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PP4, PM2_supporting, PM3_supporting.

PP4

Reported in A Brazilian patient with classic PKU PMID: 11139255

PM2_Supporting

absent in gnomAD

PM3_Supporting

detected with V388M (P by multiple submitters) PMID: 11139255

PVS1

Nonsense variant in exon 12 of 13 with NMD predicted

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