Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No ClinVar Id was directly found from the curated document
  • No CSPEC related information was provided by the message!
  • No Criteria Specification was provided in the publication event for the variant classifaction.
  • The Criteria Specification shown below is a best-estimate based on the VCEP, gene, disease, and publication date.

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

CA16020935

Gene: PAH (HGNC:5053)
Condition: phenylketonuria (MONDO:0009861)
Inheritance Mode: Autosomal recessive inheritance
UUID: 89ab15ff-9068-43e7-8228-fca13e803639
Approved on: 2022-06-12
Published on: 2022-06-12

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
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Pathogenic

Met criteria codes 3
PP4 PM2 PVS1
Not Met criteria codes 1
PM3

Evidence Links 0

Expert Panel

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.
Met criteria codes
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.
PVS1
The .1078G>T (p.Glu360Ter) nonsense variant occurs in exon 11 of 13 and is predicted to result in NMD.
Not Met criteria codes
PM3
E360X was identified in one allele of a patient in PMID: 10693064, however the other allele was not specified.
Curation History
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