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_000277.2(PAH):c.1024delG (p.Ala342Hisfs)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229279

102475 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 4cc2d322-d860-4209-b3df-63e58bac3b07

Approved on: 2018-08-10

Published on: 2019-08-17

HGVS expressions

NM_000277.2:c.1024delG

NM_000277.2(PAH):c.1024delG (p.Ala342Hisfs)

NC_000012.12:g.102844378del

CM000674.2:g.102844378del

NC_000012.11:g.103238156del

CM000674.1:g.103238156del

NC_000012.10:g.101762286del

NG_008690.1:g.78226del

NG_008690.2:g.119034del

NM_000277.1:c.1024del

NM_000277.2:c.1024del

NM_001354304.1:c.1024del

NM_000277.3:c.1024del

ENST00000307000.7:c.1009del

ENST00000549247.6:n.783del

ENST00000551114.2:n.686del

ENST00000553106.5:c.1024del

ENST00000635477.1:n.128del

ENST00000635528.1:n.539del

Pathogenic

PVS1 PM2 PP4_Moderate

Evidence Links 1

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: PM2: Absent from ExAC, gnomAD, 1000G, ESP; PVS1: Frameshift variant; PP4_Moderate: Reported in patients with PAH deficiency. Bh4 defects excluded. (PMID:9634518). 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: (PM2, PVS1, PP4_Moderate).

PVS1

Frameshift variant

PM2

Absent from ExAC, gnomAD, 1000G, ESP

PP4_Moderate

Reported in patients with PAH deficiency. Bh4 defects excluded.

A342fsdelG detected. PAH deficiency had been assessed after exclusion of a defect in tetrahydrobiopterin metabolism. PubMed:9634518

Curation History

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