ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.500A>G (p.Asn167Ser) (rs77554925)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148722 SCV000190454 likely benign Phenylketonuria 2014-06-01 no assertion criteria provided research
ClinGen PAH Variant Curation Expert Panel, RCV000148722 SCV000852160 uncertain significance Phenylketonuria 2018-08-13 reviewed by expert panel curation 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).
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088951 SCV000119552 not provided not provided no assertion provided not provided
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000148722 SCV000267432 uncertain significance Phenylketonuria 2016-03-18 criteria provided, single submitter reference population

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