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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CA16020853

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 40d1617a-1556-4d96-80b5-f6a005e3f3e0

Approved on: 2020-12-08

Published on: 2021-03-21

HGVS expressions

NM_001354304.2:c.753del

NC_000012.12:g.102852904del

CM000674.2:g.102852904del

NC_000012.11:g.103246682del

CM000674.1:g.103246682del

NC_000012.10:g.101770812del

NG_008690.1:g.69699del

NG_008690.2:g.110507del

ENST00000307000.7:c.738del

ENST00000553106.5:c.753del

NM_000277.1:c.753del

NM_000277.2:c.753del

NM_001354304.1:c.753del

NM_000277.3:c.753del

Pathogenic

PM2 PVS1 PP4

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The frameshift variant NM_000277.3(PAH):c.753del (p.Arg252GlyfsTer89) occurs in exon 7 of 13 and is predicted to result in NMD. The variant is absent from population databases, including gnomAD. One patient has been reported (PMID: 21307867) with this variant. In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

PM2

The variant is absent from controls in gnomAD, ExAC, 1000 Genomes, and ESP.

PVS1

The frameshift variant c.753del (p.Arg252Glyfs) occurs in exon 7 of 13 and generates a stop codon at position 340 in exon 10, which is predicted to result in NMD.

PP4

One patient in PMID: 21307867 has a serum phenylalanine level higher than 0.18 mM.

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