ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.802T>C (p.Tyr268His) (rs62507263)

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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, RCV000758117 SCV000886594 uncertain significance Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.802T>C (p.Tyr268His) variant in PAH has not been reported in the literature to our knowledge. The reference in BioPKU/PAHdb (Eisensmith, 1996) does not include this variant. It is absent from ExAC, 1000G, and ESP, with Extremely low frequency in gnomAD (0.000004063). A deleterious effect is predicted in SIFT, Polyphen2, MutationTaster, and REVEL=0.977. . In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089100 SCV000119707 not provided not provided no assertion provided not provided

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