ClinVar Miner

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

dbSNP: rs77554925
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
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
Invitae RCV000148722 SCV001006429 benign Phenylketonuria 2021-12-18 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.