ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.605C>T (p.Ala202Val)

dbSNP: rs2136649533
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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 RCV001789810 SCV002032188 likely pathogenic Phenylketonuria 2021-11-12 reviewed by expert panel curation The c.605C>T (p.A202V) variant in PAH has been reported without confirmed phase with p.Arg408Gln, which is classified as pathogenic by the PAH VCEP (Variation ID 612). It has also been observed in trans to c.442-1G>A (classified as pathogenic by PAH VCEP Variation ID 594) in a patient with classic PKU (PMID: 15319459). In-vitro functional studies are unavailable. This variant is absent from population databases. Multiple lines of computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as Likely Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, PP3, PP4_moderate.

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