ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.586T>A (p.Ser196Thr)

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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 RCV003316900 SCV004015304 uncertain significance Phenylketonuria 2023-03-24 reviewed by expert panel curation The c.586T>A (p.Ser196Thr) variant in PAH has been reported in at least one individual with mild hyperphenylalanemia, where it was observed in trans to c.1055del (p.Gly352fs), which is classified as pathogenic by the PAH VCEP (Variation ID: 102498). In-vitro functional studies are unavailable. This variant is absent from population databases. Multiple lines of computational evidence do not support a deleterious effect. In summary, this variant meets criteria to be classified as a variant of uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PM3, BP4, PP4.

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