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]

Variant: NM_000277.2(PAH):c.1068C>G (p.Tyr356Ter)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229327

595 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 9025e366-1413-4d27-b5fa-3879c6f42ce5

Approved on: 2018-08-07

Published on: 2019-04-06

HGVS expressions

NM_000277.2:c.1068C>G

NM_000277.2(PAH):c.1068C>G (p.Tyr356Ter)

NC_000012.12:g.102843777G>C

CM000674.2:g.102843777G>C

NC_000012.11:g.103237555G>C

CM000674.1:g.103237555G>C

NC_000012.10:g.101761685G>C

NG_008690.1:g.78826C>G

NG_008690.2:g.119634C>G

NM_000277.1:c.1068C>G

NM_001354304.1:c.1068C>G

NM_000277.3:c.1068C>G

ENST00000307000.7:c.1053C>G

ENST00000549247.6:n.827C>G

ENST00000551114.2:n.730C>G

ENST00000553106.5:c.1068C>G

ENST00000635477.1:n.172C>G

ENST00000635528.1:n.583C>G

Pathogenic

PP4_Moderate PVS1 PM2

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PM2: ExAC MAF:0.00006.; PP4_Moderate: seen in classic and mild PKU patients. BH4 deficiency excluded.. In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PVS1, PM2, PP4_Moderate).

PP4_Moderate

seen in classic and mild PKU patients. BH4 deficiency excluded.

PVS1

Nonsense variant

PM2

ExAC MAF:0.00006.

Curation History

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