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.781C>T (p.Arg261Ter)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229757

610 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: a79e0701-cceb-4823-a816-a3acbb89f1b7

Approved on: 2018-08-05

Published on: 2019-04-05

HGVS expressions

NM_000277.1:c.781C>T

NM_000277.1(PAH):c.781C>T (p.Arg261Ter)

NC_000012.12:g.102852876G>A

CM000674.2:g.102852876G>A

NC_000012.11:g.103246654G>A

CM000674.1:g.103246654G>A

NC_000012.10:g.101770784G>A

NG_008690.1:g.69727C>T

NG_008690.2:g.110535C>T

NM_000277.2:c.781C>T

NM_001354304.1:c.781C>T

NM_000277.3:c.781C>T

ENST00000307000.7:c.766C>T

ENST00000549247.6:n.540C>T

ENST00000553106.5:c.781C>T

Pathogenic

PP4 PM3 PVS1

Evidence Links 2

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PP4: Detected in 2 unrelated patients (PMID:1682234); PM3: Detected with H170D, pathogenic (PMID:11385716). In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PVS1, PP4, PM3).

PP4

Detected in 2 unrelated patients

A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. PubMed:1682234

PM3

Detected with H170D, pathogenic

Patient genotype: H170D (VarID 92744, Pathogenic) /R261X PubMed:11385716

PVS1

Nonsense variant

Curation History

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.