ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.869A>G (p.His290Arg)

dbSNP: rs62642919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV001375907 SCV001572878 uncertain significance Phenylketonuria 2021-03-21 reviewed by expert panel curation The c.869A>G (p.His290Arg) variant in PAH has been reported in a Chinese patient PKU (PMID: 15300621) This variant is absent from population databases. A deleterious effect is predicted by multiple lines of computational evidence. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089144 SCV000119755 not provided not provided no assertion provided not provided

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