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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.500A>G (p.Asn167Ser)

CA229585

102703 (ClinVar)

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

HGVS expressions

NM_000277.2:c.500A>G
NM_000277.1:c.500A>G
NM_001354304.1:c.500A>G
NM_000277.3:c.500A>G
ENST00000307000.7:c.485A>G
ENST00000549111.5:n.596A>G
ENST00000551988.5:n.530+10857A>G
ENST00000553106.5:c.500A>G
NC_000012.12:g.102866605T>C
CM000674.2:g.102866605T>C
NC_000012.11:g.103260383T>C
CM000674.1:g.103260383T>C
NC_000012.10:g.101784513T>C
NG_008690.1:g.55998A>G
NG_008690.2:g.96806A>G
NM_000277.2(PAH):c.500A>G (p.Asn167Ser)

Uncertain Significance

Met criteria codes 2
BS1 PP4
Unmet criteria codes 1
PP3

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PP4: N167S was observed in 1 case (genotype N167S/-) with benign persistent hyperphenylalaninemia (200-600 uM). (PMID:11385716); BS1: gnomAD MAF: 0.01461. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PP4, BS1).
Met criteria codes
BS1
gnomAD MAF: 0.01461
PP4
N167S was observed in 1 case (genotype N167S/-) with benign persistent hyperphenylalaninemia (200-600 uM).

Unmet criteria codes
PP3
Conflicting interpretations of pathogenicity: benign and tolerated in SIFT, PP2. Deleterious in MutationTaster
Approved on: 2018-08-13
Published on: 2019-04-06
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