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_000277.3(PAH):c.1010G>T (p.Gly337Val)

CA229268

102467 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Link to MONDO

UUID: debd6c72-0aa1-4682-8838-70930a42c6ef

HGVS expressions

NM_000277.3:c.1010G>T

NM_000277.3(PAH):c.1010G>T (p.Gly337Val)

ENST00000553106.6:c.1010G>T

ENST00000307000.7:c.995G>T

ENST00000549247.6:n.769G>T

ENST00000551114.2:n.672G>T

ENST00000553106.5:c.1010G>T

ENST00000635477.1:n.114G>T

ENST00000635528.1:n.525G>T

NM_000277.1:c.1010G>T

NM_000277.2:c.1010G>T

NM_001354304.1:c.1010G>T

NM_001354304.2:c.1010G>T

NC_000012.12:g.102844391C>A

CM000674.2:g.102844391C>A

NC_000012.11:g.103238169C>A

CM000674.1:g.103238169C>A

NC_000012.10:g.101762299C>A

NG_008690.1:g.78212G>T

NG_008690.2:g.119020G>T

Uncertain Significance

PP4 PM2

PP3 PM5

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1010G>T (p.Gly337Val) variant in PAH has been reported in a patient with PKU, BH4 deficiency not assessed. (PMID: 9012412) This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. Computational evidence is conflicting (Deleterious effect predicted in SIFT, MutationTaster, REVEL=0.816. PolyPhen2 HVAR predicts benign). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2

PP4

Reported in a patient with PKU, BH4 deficiency not assessed. PMID: 9012412

PM2

Absent from controls in ExAC, gnomAD, 1000 Genomes, ESP

PP3

Deleterious effect predicted in SIFT, MutationTaster, REVEL=0.816. PolyPhen2 HVAR predicts benign

PM5

The current variant is the only variant found in this codon in ClinVar

Approved on: 2019-12-15

Published on: 2021-05-14

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