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.1100T>C (p.Leu367Pro)

CA229344

102525 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 26cea1af-9453-4d25-8531-cb770a0f706d

HGVS expressions

NM_000277.2:c.1100T>C

NM_000277.2(PAH):c.1100T>C (p.Leu367Pro)

NC_000012.12:g.102843745A>G

CM000674.2:g.102843745A>G

NC_000012.11:g.103237523A>G

CM000674.1:g.103237523A>G

NC_000012.10:g.101761653A>G

NG_008690.1:g.78858T>C

NG_008690.2:g.119666T>C

NM_000277.1:c.1100T>C

NM_001354304.1:c.1100T>C

NM_000277.3:c.1100T>C

ENST00000307000.7:c.1085T>C

ENST00000549247.6:n.859T>C

ENST00000551114.2:n.762T>C

ENST00000553106.5:c.1100T>C

ENST00000635477.1:n.204T>C

ENST00000635528.1:n.615T>C

Uncertain Significance

PM2 PP3 PP4_Moderate

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1100T>C (p.Leu367Pro) variant in PAH is reported in a Japanese patient with PKU, BH4 deficiency was excluded. (PMID: 21307867) This variant is absent in population databases. It is predicted deleterious by SIFT, Polyphen-2 and MutationTaster. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.

PM2

Absent from controls.

PP3

Predicted deleterious/ damaging by SIFT, polyphen2 and MutTaster.

PP4_Moderate

Seen in a Japanese Patient with PKU, BH4 deficiency excluded. PMID: 21307867

Seen in a Japanese Patient with PKU., BH4 deficiency excluded. PubMed:21307867

Approved on: 2018-12-08

Published on: 2019-04-06

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