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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.526C>T (p.Arg176Ter)

CA275338

102723 (ClinVar)

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

HGVS expressions

NM_000277.2:c.526C>T
NM_000277.1:c.526C>T
NM_001354304.1:c.526C>T
NM_000277.3:c.526C>T
ENST00000307000.7:c.511C>T
ENST00000549111.5:n.622C>T
ENST00000551988.5:n.547C>T
ENST00000553106.5:c.526C>T
NC_000012.12:g.102855316G>A
CM000674.2:g.102855316G>A
NC_000012.11:g.103249094G>A
CM000674.1:g.103249094G>A
NC_000012.10:g.101773224G>A
NG_008690.1:g.67287C>T
NG_008690.2:g.108095C>T
NM_000277.2(PAH):c.526C>T (p.Arg176Ter)

Pathogenic

Met criteria codes 4
PM2 PM3_Strong PP4_Moderate PVS1

Expert Panel

Evidence Links 2

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PVS1: Nonsense variant; PM2: ExAC MAF: 0.00010; PP4_Moderate: BH4 defect excluded in all patients in Liu 2015. Identified in 6 patients in this study (PMID:10394930; PMID:26600521); PM3_Strong: Identified in 6 patients, in trans with R243Q and R241C (both pathogenic) (PMID:26600521). 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_Moderate, PM3_Strong).
Met criteria codes
PM2
ExAC MAF: 0.00010
PM3_Strong
Identified in 6 patients, in trans with R243Q and R241C (both pathogenic)

PP4_Moderate
BH4 defect excluded in all patients in Liu 2015. Identified in 6 patients in this study

PVS1
Nonsense variant
Approved on: 2018-08-13
Published on: 2019-04-06
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