ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1204T>G (p.Phe402Val)

dbSNP: rs62508725
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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 RCV001269046 SCV001448237 likely pathogenic Phenylketonuria 2024-11-17 reviewed by expert panel curation The c.1204T>G (p.Phe402Val) variant in PAH is currently unreported in the literature. This variant is absent from population databases (PM2_Supporting), and is predicted deleterious by SIFT, PolyPhen2, MutationTester, and REVEL = 0.973 (PP3_Strong). Other missense variants [c.1204T>C (p.Phe402Leu); c.1205T>G (p.Phe402Cys)] in the same codon have been classified as likely pathogenic by the ClinGen Phenylketonuria Variant Curation Expert Panel (PM5_Supporting). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2_Supporting, PP3_Strong, PM5_supporting.

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