ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1166C>A (p.Ala389Glu)

dbSNP: rs1874688379
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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 RCV001789828 SCV002032228 uncertain significance Phenylketonuria 2021-11-21 reviewed by expert panel curation The c.1166C>A variant in PAH has been reported in 1 patient of European ancestry with phenylketonuria (PMID: 10541324). This variant is absent from population databases (PM2), and is predicted deleterious by SIFT, PolyPhen2, MutationTaster, and REVEL = 0.975 (PP3). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4.

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