ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.934G>C (p.Gly312Arg) (rs763115697)

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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 RCV000758102 SCV000886575 uncertain significance Phenylketonuria 2018-12-09 reviewed by expert panel curation The c.934G>C (p.Gly312Arg) variant in PAH is absent from population databases, and predicted damaging by in silico algorithms. It is identified in a single patient with phenylketonuria, in trans with a VUS (IVS8-7A>G) Defect in BH4 metabolism was not excluded in this publication (Bashyam, 2014. PMID: 24130151). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PP3.

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