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

CA16020992

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 6c57fe51-aac4-4858-bf67-3a005cf33a82

HGVS expressions

NM_001354304.2:c.1312A>G

NC_000012.12:g.102840403T>C

CM000674.2:g.102840403T>C

NC_000012.11:g.103234181T>C

CM000674.1:g.103234181T>C

NC_000012.10:g.101758311T>C

NG_008690.1:g.82200A>G

NG_008690.2:g.123008A>G

NM_000277.1:c.1312A>G

NM_000277.2:c.1312A>G

NM_001354304.1:c.1312A>G

NM_000277.3:c.1312A>G

ENST00000307000.7:c.1297A>G

ENST00000551114.2:n.974A>G

ENST00000553106.5:c.1312A>G

ENST00000635477.1:n.416A>G

ENST00000635528.1:n.827A>G

Uncertain Significance

PM2

PP3 PP4 PM3

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1312A>G (p.Asn438Asp) variant in PAH is not currently reported in the literature. This variant is absent from population databases (PM2). Computation evidence for this variant is conflicting. It is predicted damaging by SIFT, benign by PolyPhen2, disease causing by MutationTaster, and REVEL = 0.671. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.

PM2

Variant absent from population databases

PP3

Conflicting computational evidence. Predicted damaging by SIFT, benign by PolyPhen2, disease causing by MutationTaster, and REVEL = 0.671.

PP4

Variant not currently reported in the literature

PM3

Variant not currently reported in the literature.

Approved on: 2020-04-17

Published on: 2020-04-17

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