ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) (rs62508628)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000088726 SCV000516021 pathogenic not provided 2015-03-13 criteria provided, single submitter clinical testing The S350Y variant has been reported previously in association with classic phenylketonuria (PKU) in an individual who was heterozygous for S350Y and in whom a second pathogenic variatn was not identified (Polak et al., 2013). The S350Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved and in silico analysispredicts this variant is probably damaging to the protein structure/function. Furthermore, a conservativemissense variant at this residue (S350T) and missense variants in nearby residues (I340T, K341R/T, A342P/T, Y343D/C/F, Y344R/D/S/V, A345S/T, G346R/E, L347F, L348V, S349A/L/P, G352R/C, Y356H, C357G/Y) have been reported in the Human Gene Mutation Database in association with PKU (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret S350Y to be a pathogenic variant.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088726 SCV000119308 not provided not provided no assertion provided not provided

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