ClinVar Miner

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

dbSNP: rs77554925
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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).
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000148722 SCV000267432 uncertain significance Phenylketonuria 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000148722 SCV001006429 benign Phenylketonuria 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000148722 SCV001138802 benign Phenylketonuria 2019-05-28 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088951 SCV000119552 not provided not provided no assertion provided not provided
CSER _CC_NCGL, University of Washington RCV000148722 SCV000190454 likely benign Phenylketonuria 2014-06-01 no assertion criteria provided research
Natera, Inc. RCV000148722 SCV001455414 benign Phenylketonuria 2020-01-11 no assertion criteria provided clinical testing

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