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_000277.1(PAH):c.689T>G (p.Val230Gly)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229692

102785 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 48ca806b-68b4-4031-bbb4-ea25d6cf27b9

Approved on: 2020-08-20

Published on: 2021-12-12

HGVS expressions

NM_000277.1:c.689T>G

NM_000277.1(PAH):c.689T>G (p.Val230Gly)

NC_000012.12:g.102855153A>C

CM000674.2:g.102855153A>C

NC_000012.11:g.103248931A>C

CM000674.1:g.103248931A>C

NC_000012.10:g.101773061A>C

NG_008690.1:g.67450T>G

NG_008690.2:g.108258T>G

ENST00000553106.6:c.689T>G

ENST00000307000.7:c.674T>G

ENST00000549111.5:n.785T>G

ENST00000553106.5:c.689T>G

NM_000277.2:c.689T>G

NM_001354304.1:c.689T>G

NM_000277.3:c.689T>G

NM_001354304.2:c.689T>G

NM_000277.3(PAH):c.689T>G (p.Val230Gly)

Uncertain Significance

PP3 PM2

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.689T>G (p.Val230Gly) variant in PAH was reported to the McGill PAHdb by Carducci in 1999, but has not been found in the literature. This variant is absent in population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.

PP3

Damaging in SIFT, Polyphen2, MutationTaster, REVEL=0.973

PM2

Absent from ExAC, gnomAD, 1000G, ESP

PM5

V230I (VarID 102784) is LP by PAH VCEP

Curation History

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