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]

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Variant: NM_000277.2(PAH):c.864G>C (p.Leu288Phe)

CA229828

102881 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: fe639d15-3da2-40b0-ad2f-cf2cb65db78d

Approved on: 2018-12-09

Published on: 2019-04-06

HGVS expressions

NM_000277.2:c.864G>C

NM_000277.2(PAH):c.864G>C (p.Leu288Phe)

NC_000012.12:g.102851735C>G

CM000674.2:g.102851735C>G

NC_000012.11:g.103245513C>G

CM000674.1:g.103245513C>G

NC_000012.10:g.101769643C>G

NG_008690.1:g.70868G>C

NG_008690.2:g.111676G>C

NM_000277.1:c.864G>C

NM_001354304.1:c.864G>C

NM_000277.3:c.864G>C

ENST00000307000.7:c.849G>C

ENST00000549247.6:n.623G>C

ENST00000551114.2:n.526G>C

ENST00000553106.5:c.864G>C

ENST00000635477.1:n.25G>C

Uncertain Significance

PP3 PP4 PM2

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.864G>C (p.Leu288Phe) variant in PAH is absent from population databases, and in silico predictors suggest a damaging effect on protein function. It is listed in hPAHdb 2009 McGill, but there is no clinical information on any patient. To our current knowledge (December, 2018), this variant has not been previously reported in the literature. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.

PP3

All in silico predict damaging effect. REVEL=0.749

PP4

NN(2001) hPAHdb 2009 McGill

PM2

Absent from all population databases

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