ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1175T>C (p.Phe392Ser)

dbSNP: rs199475695
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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 RCV001269040 SCV001448231 uncertain significance Phenylketonuria 2020-08-31 reviewed by expert panel curation The c.1175T>C (p.Phe392Ser) variant in PAH was reported in one non-English article that is not accessible (PMID: 22333022). This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.98 (PP3). This variant is same codon as F392I, reported as pathogenic in ClinVar (VarID:852581; 2 submitters) (PM5). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PM5
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088778 SCV000119364 not provided not provided no assertion provided not provided

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