ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1132A>T (p.Thr378Ser)

dbSNP: rs62642911
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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 RCV001200006 SCV001370861 uncertain significance Phenylketonuria 2020-05-14 reviewed by expert panel curation The NM_000277.3:c.1132A>T (p.Thr378Ser) missense variant has been reported in one mild PKU patient (PMID: 10767174), with compound heterozygous genotype of Thr378Ser with Arg243Gln (ClinVar591; Pathogenic). This variant is absent from 1000G, ESP, and gnomAD databases. It is predicted not to a have damaging effect: SIFT: Tolerated, PolyPhen: Benign, MutationTaster: Polymorphism. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied:PM2, PM3_supporting, PP4_moderate, BP4.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088768 SCV000119352 not provided not provided no assertion provided not provided

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