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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

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NM_000277.2(PAH):c.912+1G>A

CA220591

92752 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.912+1G>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
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_000277.2(PAH):c.912+1G>A

Pathogenic

Met criteria codes 3
PM2 PVS1 PP4

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
PM2
Extremely low frequency. ExAC MAF=0.00006.
PVS1
Canonical +1 splice site
PP4
Detected in 5 patients with classical PKU.

Approved on: 2018-08-10
Published on: 2019-08-17
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