ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1204T>A (p.Phe402Ile)

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 RCV001789824 SCV002032220 uncertain significance Phenylketonuria 2021-05-15 reviewed by expert panel curation The c.1204T>A (p.Phe402Ile) variant in PAH has been detected in 1 Japanese patient with mild HPA, BH4 deficiency excluded (PMID: 21307867). This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.946 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_M.

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