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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.503delA (p.Tyr168Serfs)

CA229588

102705 (ClinVar)

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

HGVS expressions

NM_000277.2:c.503delA
NM_000277.1:c.503del (p.Tyr168SerfsTer27)
XM_011538422.1:c.503del (p.Tyr168SerfsTer27)
NM_000277.2:c.503del
NM_001354304.1:c.503del (p.Tyr168SerfsTer27)
XM_017019370.2:c.503del (p.Tyr168SerfsTer27)
ENST00000307000.7:c.488del (p.Tyr163SerfsTer27)
ENST00000549111.5:n.599del
ENST00000551988.5:n.530+10860del
ENST00000553106.5:c.503del (p.Tyr168SerfsTer27)
NC_000012.12:g.102866602del
CM000674.2:g.102866602del
NC_000012.11:g.103260380del
CM000674.1:g.103260380del
NC_000012.10:g.101784510del
NG_008690.1:g.56001del
NG_008690.2:g.96809del

Pathogenic

Met criteria codes 3
PP4 PM2 PVS1

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH EP
PAH-specific ACMG/AMP criteria applied: PVS1: Frameshift variant; PM2: Extremely low frequency. ExAC MAF: 0.00001.; PP4: Detected in PKU patient in international phase II clinical trial for sapropterin. (PMID:23430918). 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
PP4
Detected in PKU patient in international phase II clinical trial for sapropterin.

PM2
Extremely low frequency. ExAC MAF: 0.00001.
PVS1
Frameshift variant
Approved on: 2018-08-10
Published on: 2018-10-02
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