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

Variant: NM_001354304.2:c.1078G>T

CA16020935

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 89ab15ff-9068-43e7-8228-fca13e803639

HGVS expressions

NM_001354304.2:c.1078G>T

NC_000012.12:g.102843767C>A

CM000674.2:g.102843767C>A

NC_000012.11:g.103237545C>A

CM000674.1:g.103237545C>A

NC_000012.10:g.101761675C>A

NG_008690.1:g.78836G>T

NG_008690.2:g.119644G>T

ENST00000553106.6:c.1078G>T

ENST00000307000.7:c.1063G>T

ENST00000549247.6:n.837G>T

ENST00000551114.2:n.740G>T

ENST00000553106.5:c.1078G>T

ENST00000635477.1:n.182G>T

ENST00000635528.1:n.593G>T

NM_000277.1:c.1078G>T

NM_000277.2:c.1078G>T

NM_001354304.1:c.1078G>T

NM_000277.3:c.1078G>T

Pathogenic

PVS1 PP4 PM2

PM3

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1078G>T (p.Glu360Ter) nonsense variant occurs in exon 11 of 13 and is predicted to result in NMD. It absent from population databases, including gnomAD. It has been reported in at least one HPA patient (PMID: 10693064 ). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

PVS1

The .1078G>T (p.Glu360Ter) nonsense variant occurs in exon 11 of 13 and is predicted to result in NMD.

PP4

One HPA patient was reported in PMID: 10693064 with Phe >180umol/L

PM2

The variant is absent from population databases including gnomAD, ExAC, 1000 Genomes, and ESP.

PM3

E360X was identified in one allele of a patient in PMID: 10693064, however the other allele was not specified.

Approved on: 2022-06-12

Published on: 2022-06-12

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