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_001354304.2:c.1166C>A

CA16020954

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7e50dfcd-d3e0-4de4-82a4-7ac5e0a4714c

HGVS expressions

NM_001354304.2:c.1166C>A

NC_000012.12:g.102843679G>T

CM000674.2:g.102843679G>T

NC_000012.11:g.103237457G>T

CM000674.1:g.103237457G>T

NC_000012.10:g.101761587G>T

NG_008690.1:g.78924C>A

NG_008690.2:g.119732C>A

ENST00000553106.6:c.1166C>A

ENST00000307000.7:c.1151C>A

ENST00000549247.6:n.925C>A

ENST00000551114.2:n.828C>A

ENST00000553106.5:c.1166C>A

ENST00000635477.1:n.270C>A

ENST00000635528.1:n.681C>A

NM_000277.1:c.1166C>A

NM_000277.2:c.1166C>A

NM_001354304.1:c.1166C>A

NM_000277.3:c.1166C>A

Uncertain Significance

PM2 PP4 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.1166C>A variant in PAH has been reported in 1 patient of European ancestry with phenylketonuria (PMID: 10541324). This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.975 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4.

PM2

Variant absent from population databases.

PP4

PMID: 10541324 - A389E detected in 1 patient with European ancestry; BH4 deficiency excluded; Phe level not specified

PP3

Predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.975

PM5

At same codon as c.1166C>G (p.A389G) curated as VUS by ClinGen PAH VCEP.

Approved on: 2021-11-21

Published on: 2021-12-12

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