ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.694C>G (p.Gln232Glu) (rs62507348)

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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, RCV000758123 SCV000886601 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.694C>G (p.Gln232Glu) variant in PAH has not been reported in the literature in individuals with PKU. It has been co-expressed with p.E178G and showed 55.0% enzyme activity. PMID: 26803807. BioPKU reports a 42% enzyme activity for this variant (PS3; PMID: 12501224). This variant is absent in population databases (PM2). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PS3, PM2.

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