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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.1089delG (p.Lys363Asnfs)

CA229336

102518 (ClinVar)

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

HGVS expressions

NM_000277.2:c.1089delG
NM_000277.1:c.1089del
NM_000277.2:c.1089del
NM_001354304.1:c.1089del
NM_000277.3:c.1089del
ENST00000307000.7:c.1074del
ENST00000549247.6:n.848del
ENST00000551114.2:n.751del
ENST00000553106.5:c.1089del
ENST00000635477.1:n.193del
ENST00000635528.1:n.604del
NC_000012.12:g.102843756del
CM000674.2:g.102843756del
NC_000012.11:g.103237534del
CM000674.1:g.103237534del
NC_000012.10:g.101761664del
NG_008690.1:g.78847del
NG_008690.2:g.119655del
NM_000277.2(PAH):c.1089delG (p.Lys363Asnfs)

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: PVS1: Frameshift variant; PM2: Absent from ExAC, gnomAD, 1000G, ESP; PP4: Detected in a patient 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: (PVS1, PM2, PP4).
Met criteria codes
PVS1
Frameshift variant
PP4
Detected in a patient with Classical PKU.

PM2
Absent from ExAC, gnomAD, 1000G, ESP
Approved on: 2018-08-10
Published on: 2019-08-17
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