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.58C>T (p.Gln20Ter)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229635

102744 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 0c208e34-37bd-4393-b238-7aeb88c8431e

Approved on: 2019-02-26

Published on: 2019-04-06

HGVS expressions

NM_000277.2:c.58C>T

NM_000277.2(PAH):c.58C>T (p.Gln20Ter)

NC_000012.12:g.102917073G>A

CM000674.2:g.102917073G>A

NC_000012.11:g.103310851G>A

CM000674.1:g.103310851G>A

NC_000012.10:g.101834981G>A

NG_008690.1:g.5530C>T

NG_008690.2:g.46338C>T

NM_000277.1:c.58C>T

NM_001354304.1:c.58C>T

NM_000277.3:c.58C>T

ENST00000307000.7:c.-90C>T

ENST00000546844.1:c.58C>T

ENST00000547319.1:n.369C>T

ENST00000549111.5:n.154C>T

ENST00000550978.6:n.42C>T

ENST00000551337.5:c.58C>T

ENST00000551988.5:n.147C>T

ENST00000553106.5:c.58C>T

ENST00000635500.1:n.29-4175C>T

Pathogenic

PM2 PVS1 PP4

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

Pathogenic: The c.58C>T (p.Gln20Ter) is a null variant reported in one patient with classic PKU phenotype (PVS1, PP4, PMID: 9391881). This variant is absent from population databases, including gnomAD, 1000 Genomes, and ESP (PM2). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

PM2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PVS1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

PP4

This variant was reported in a cohort patients with classic PKU classified on the basis of plasma phenylalanine concentration above 20mg/100mL. PMID: 9391881

This variant was reported in a cohort of 133 patients with classic PKU phenotype classified on the basis of plasma phenylalanine concentration above 20mg/100mL. One allele was detected (see Table 1) without further information on patient's genotype. PubMed:9391881

Curation History

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