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_000277.2(PAH):c.386A>T (p.Asp129Val)

CA229529

102662 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 0f4335db-54e0-4e3f-9108-f651780b39f9

Approved on: 2020-01-26

Published on: 2020-01-31

HGVS expressions

NM_000277.2:c.386A>T

NM_000277.2(PAH):c.386A>T (p.Asp129Val)

NC_000012.12:g.102877517T>A

CM000674.2:g.102877517T>A

NC_000012.11:g.103271295T>A

CM000674.1:g.103271295T>A

NC_000012.10:g.101795425T>A

NG_008690.1:g.45086A>T

NG_008690.2:g.85894A>T

NM_000277.1:c.386A>T

NM_001354304.1:c.386A>T

NM_000277.3:c.386A>T

ENST00000307000.7:c.371A>T

ENST00000549111.5:n.482A>T

ENST00000550978.6:n.370A>T

ENST00000551337.5:c.386A>T

ENST00000551988.5:n.475A>T

ENST00000553106.5:c.386A>T

Uncertain Significance

PM5 PM2 PP3

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.386A>T (p.Asp129Val) variant in PAH has not been reported in the literature to our knowledge. This variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.986 (PM3). The (p.Asp129Gly) variant is likely pathogenic by 1 submitter and PAH VCEP (PM5). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM5, PP3.

PM5

(p.Asp129Gly) is likely pathogenic by 1 submitter and PAH VCEP

PM2

Absent from ExAC, gnomAD, 1000G, ESP.

PP3

Deleterious effect predicted in SIFT, Polyphen2, MutationTaster. REVEL=0.986.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.