ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.820A>G (p.Lys274Glu) (rs142934616)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000148723 SCV000852105 likely benign Phenylketonuria 2018-08-10 reviewed by expert panel curation PAH-specific ACMG/AMP criteria applied: BS1: MAF= 0.01815 in 1000G. 2 homozygotes in ExAC, 1 homozygote in 1000G.; BS3_Supporting: Enzyme activity of K274E is indistinguishable from that of the wild-type protein. Detailed kinetic analyses of PAH expressed in E. coli showed that the K274E mutant protein has kinetic properties similar to that of the wild-type protein. (PMID:11461196). In summary this variant meets criteria to be classified as likely benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BS1, BS3_Supporting).
Counsyl RCV000148723 SCV000220150 likely benign Phenylketonuria 2014-03-19 criteria provided, single submitter literature only
Invitae RCV000148723 SCV001014240 benign Phenylketonuria 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000148723 SCV001138800 benign Phenylketonuria 2019-05-28 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089112 SCV000119719 not provided not provided no assertion provided not provided
CSER _CC_NCGL, University of Washington RCV000148723 SCV000190455 likely benign Phenylketonuria 2014-06-01 no assertion criteria provided research

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