ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1010G>T (p.Gly337Val)

dbSNP: rs62517206
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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 RCV001543648 SCV001762325 uncertain significance Phenylketonuria 2019-12-15 reviewed by expert panel curation The c.1010G>T (p.Gly337Val) variant in PAH has been reported in a patient with PKU, BH4 deficiency not assessed. (PMID: 9012412) This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. Computational evidence is conflicting (Deleterious effect predicted in SIFT, MutationTaster, REVEL=0.816. PolyPhen2 HVAR predicts benign). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088698 SCV000119278 not provided not provided no assertion provided not provided

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