ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.134T>C (p.Val45Ala) (rs1592988883)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV000993626 SCV001146758 uncertain significance Phenylketonuria 2019-04-04 reviewed by expert panel curation The c.134T>C (p.Val45Ala) PAH variant has been reported in a patient with mild hyperphenylalaninemia (PMID: 22513348). This variant is absent from 1000G, ESP, and gnomAD databases. It is a missense variant with conflicting predictions of pathogenicity: SIFT: Tolerated, PolyPhen: Benign, MutationTaster: Disease causing, REVEL=0.697. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4.

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