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

CA229635

102744 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

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

• Met criteria codes: PM2 PVS1 PP4

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

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.

Met criteria codes

• 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