ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.637C>T (p.Leu213Phe) (rs1131691945)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000672958 SCV001146743 uncertain significance Phenylketonuria 2019-09-27 reviewed by expert panel curation The c.637C>T (p.Leu213Phe) variant in PAH is the same amino acid change as an established pathogenic variant, c.638T>C (p.Leu213Pro) VarID:92747. (PM5). This variant is absent in population databases (PM2). This variant has not been reported in the literature to our knowledge. Multiple lines of computational evidence support a deleterious effect (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH.
GeneDx RCV000493939 SCV000583195 likely pathogenic not provided 2017-05-26 criteria provided, single submitter clinical testing The L213F substitution occurs at a position that is conserved across species.In silico analysis predicts this variant is probably damaging to the protein structure/function. Amissense variant at the same residue (L213P) has been reported in the Human Gene MutationDatabase in association with PKU (Stenson et al., 2014), supporting the functional importance of thisregion of the protein. In summary, we interpret L213F to be likely pathogenic.
Counsyl RCV000672958 SCV000798118 uncertain significance Phenylketonuria 2018-02-26 no assertion criteria provided clinical testing

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