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.912+1G>A

CA220591

92752 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: f8b8c165-463e-4138-88c6-316879bdcf67

HGVS expressions

NM_000277.2:c.912+1G>A
NM_000277.2(PAH):c.912+1G>A
NC_000012.12:g.102851686C>T
CM000674.2:g.102851686C>T
NC_000012.11:g.103245464C>T
CM000674.1:g.103245464C>T
NC_000012.10:g.101769594C>T
NG_008690.1:g.70917G>A
NG_008690.2:g.111725G>A
NM_000277.1:c.912+1G>A
NM_001354304.1:c.912+1G>A
NM_000277.3:c.912+1G>A
ENST00000307000.7:c.897+1G>A
ENST00000549247.6:n.671+1G>A
ENST00000551114.2:n.574+1G>A
ENST00000553106.5:c.912+1G>A
ENST00000635477.1:n.73+1G>A

Pathogenic

Met criteria codes 3
PVS1 PP4 PM2

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PM2: Extremely low frequency. ExAC MAF=0.00006.; PVS1: Canonical +1 splice site; PP4: Detected in 5 patients with classical PKU. (PMID:8659548). 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: (PM2, PVS1, PP4).
Met criteria codes
PVS1
Canonical +1 splice site
PP4
Detected in 5 patients with classical PKU.

PM2
Extremely low frequency. ExAC MAF=0.00006.
Approved on: 2018-08-10
Published on: 2019-08-17
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