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_000277.3(PAH):c.352+1G>A

Curation Version - 1.0
Curation History
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CA229519

102653 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: a1787cb3-9ecf-4dd6-ac93-36c6110f9097

Approved on: 2022-12-09

Published on: 2022-12-09

HGVS expressions

NM_000277.3:c.352+1G>A

NM_000277.3(PAH):c.352+1G>A

NC_000012.12:g.102894734C>T

CM000674.2:g.102894734C>T

NC_000012.11:g.103288512C>T

CM000674.1:g.103288512C>T

NC_000012.10:g.101812642C>T

NG_008690.1:g.27869G>A

NG_008690.2:g.68677G>A

ENST00000553106.6:c.352+1G>A

ENST00000307000.7:c.337+1G>A

ENST00000548928.1:n.274+1G>A

ENST00000549111.5:n.448+1G>A

ENST00000550978.6:n.336+1G>A

ENST00000551337.5:c.352+1G>A

ENST00000551988.5:n.441+1G>A

ENST00000553106.5:c.352+1G>A

NM_000277.1:c.352+1G>A

NM_000277.2:c.352+1G>A

NM_001354304.1:c.352+1G>A

NM_001354304.2:c.352+1G>A

Likely Pathogenic

PVS1 PM2

PP4

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

This canonical PAH variant c.352+1G>A is predicted to result in nonsense mediated decay. This variant was absent in population databases. This variant has been reported in the literature (PMID: 20140859), but is not available for review. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1,PM2.

PVS1

Canonical variant predicted to undergo NMD. It occurs in the -1 splice donor site of the IVS3 results in exon skipping or use of a cryptic splice site. Located in exon 3 out of 13 coding exons, not in the last 50bp of exon 12.

PM2

This variant is absent from population databases gnomAD and ExAC

PP4

IVS3nt+1g--> a reported in abstract, article not available for review/in Chinese PMID: 20140859

Curation History

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