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]

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Variant: NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)

CA229353

102530 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: e516e743-f45c-4a0e-98a7-ef3e734c0906

HGVS expressions

NM_000277.3:c.1117_1118del

NM_000277.3(PAH):c.1117_1118del (p.Ala373fs)

NM_000277.1:c.1117_1118del

NM_000277.2:c.1117_1118del

NM_001354304.1:c.1117_1118del

NM_001354304.2:c.1117_1118del

ENST00000307000.7:c.1102_1103del

ENST00000549247.6:n.876_877del

ENST00000551114.2:n.779_780del

ENST00000553106.5:c.1117_1118del

ENST00000635477.1:n.221_222del

ENST00000635528.1:n.632_633del

NC_000012.12:g.102843727_102843728del

CM000674.2:g.102843727_102843728del

NC_000012.11:g.103237505_103237506del

CM000674.1:g.103237505_103237506del

NC_000012.10:g.101761635_101761636del

NG_008690.1:g.78875_78876del

NG_008690.2:g.119683_119684del

Pathogenic

PP4 PVS1 PM2

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1117_1118del (p.Ala373fs) variant in PAH has been reported in 1 French patient with typical PKU, serum Phe > 1.2mM, BH4 deficiency not excluded (PP4). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 11 out of 13 coding exons (11 out of total exons) (PVS1). This variant is absent from population databases (PM2). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

PP4

PMID: 8069318 - A373fs detected in 1 French patient with typical PKU, serum Phe > 1.2mM, BH4 deficiency not excluded

PubMed:8069318

PVS1

Frameshift variant, predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 11 out of 13 coding exons (11 out of total exons).

PM2

Variant absent from population databases.

Approved on: 2020-10-29

Published on: 2020-10-29

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