ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.46T>C (p.Ser16Pro) (rs62642946)

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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 RCV000993613 SCV001146730 uncertain significance Phenylketonuria 2019-02-26 reviewed by expert panel curation VUS: The c.46T>C (p.S16P) variant in PAH has not been reported in the medical literature. It is tolerated by computation predictors: SIFT, Polyphen, MutationTaster, and REVEL=0.567 (BP4). It is however absent from population databases, including gnomAD, 1000 Genomes, and ESP (PM2). In summary this variant meets the criteria to be classified as uncertain significance. PAH-specific ACMG/AMP criteria applied: BP4, PM2.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088937 SCV000119537 not provided not provided no assertion provided not provided

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