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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.1024delG (p.Ala342Hisfs)

CA229279

102475 (ClinVar)

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

HGVS expressions

NM_000277.2:c.1024delG
NM_000277.1:c.1024del
NM_000277.2:c.1024del
NM_001354304.1:c.1024del
NM_000277.3:c.1024del
ENST00000307000.7:c.1009del
ENST00000549247.6:n.783del
ENST00000551114.2:n.686del
ENST00000553106.5:c.1024del
ENST00000635477.1:n.128del
ENST00000635528.1:n.539del
NC_000012.12:g.102844378del
CM000674.2:g.102844378del
NC_000012.11:g.103238156del
CM000674.1:g.103238156del
NC_000012.10:g.101762286del
NG_008690.1:g.78226del
NG_008690.2:g.119034del
NM_000277.2(PAH):c.1024delG (p.Ala342Hisfs)

Pathogenic

Met criteria codes 3
PM2 PP4_Moderate PVS1

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PM2: Absent from ExAC, gnomAD, 1000G, ESP; PVS1: Frameshift variant; PP4_Moderate: Reported in patients with PAH deficiency. Bh4 defects excluded. (PMID:9634518). 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_Moderate).
Met criteria codes
PM2
Absent from ExAC, gnomAD, 1000G, ESP
PP4_Moderate
Reported in patients with PAH deficiency. Bh4 defects excluded.

PVS1
Frameshift variant
Approved on: 2018-08-10
Published on: 2018-12-10
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