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.46T>C (p.Ser16Pro)

CA229564

102689 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 4126d099-9ee4-4fb2-b057-e8ef788cb645

Approved on: 2019-02-26

Published on: 2019-04-06

HGVS expressions

NM_000277.2:c.46T>C

NM_000277.2(PAH):c.46T>C (p.Ser16Pro)

NC_000012.12:g.102917085A>G

CM000674.2:g.102917085A>G

NC_000012.11:g.103310863A>G

CM000674.1:g.103310863A>G

NC_000012.10:g.101834993A>G

NG_008690.1:g.5518T>C

NG_008690.2:g.46326T>C

NM_000277.1:c.46T>C

NM_001354304.1:c.46T>C

NM_000277.3:c.46T>C

ENST00000307000.7:c.-102T>C

ENST00000546844.1:c.46T>C

ENST00000547319.1:n.357T>C

ENST00000549111.5:n.142T>C

ENST00000550978.6:n.30T>C

ENST00000551337.5:c.46T>C

ENST00000551988.5:n.135T>C

ENST00000553106.5:c.46T>C

ENST00000635500.1:n.29-4187T>C

Uncertain Significance

BP4 PM2

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

VUS: The c.46T>C (p.S16P) variant in PAH has not been reported in the medical literature. It is tolerated by computation predictors: SIFT, Polyphen, MutationTaster, and REVEL=0.567 (BP4). It is however absent from population databases, including gnomAD, 1000 Genomes, and ESP (PM2). In summary this variant meets the criteria to be classified as uncertain significance. PAH-specific ACMG/AMP criteria applied: BP4, PM2.

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PM2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

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.