The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Criteria Specification: CSpec Registry PDF

Variant: NM_000277.2(PAH):c.561G>A (p.Trp187Ter)

CA229624

102736 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: c75a3cc6-1a5e-4837-b431-6e2b2a14c0b1

HGVS expressions

NM_000277.2:c.561G>A
NM_000277.2(PAH):c.561G>A (p.Trp187Ter)
NC_000012.12:g.102855281C>T
CM000674.2:g.102855281C>T
NC_000012.11:g.103249059C>T
CM000674.1:g.103249059C>T
NC_000012.10:g.101773189C>T
NG_008690.1:g.67322G>A
NG_008690.2:g.108130G>A
NM_000277.1:c.561G>A
NM_001354304.1:c.561G>A
NM_000277.3:c.561G>A
ENST00000307000.7:c.546G>A
ENST00000549111.5:n.657G>A
ENST00000551988.5:n.582G>A
ENST00000553106.5:c.561G>A

Pathogenic

Met criteria codes 3
PVS1 PM2 PP4_Moderate

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PM2: Extremely low frequency in gnomAD. MAF=0.00002.; PP4_Moderate: Detected in 3 chromosomes of patients with PAH deficiency. BH4 deficiency ruled out. (PMID:8268925). 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).
Met criteria codes
PVS1
Nonsense variant
PM2
Extremely low frequency in gnomAD. MAF=0.00002.
PP4_Moderate
Detected in 3 chromosomes of patients with PAH deficiency. BH4 deficiency ruled out.

Approved on: 2018-08-10
Published on: 2019-04-06
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