ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.59A>C (p.Gln20Pro) (rs199475662)

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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 RCV000993600 SCV001146691 uncertain significance Phenylketonuria 2019-03-10 reviewed by expert panel curation VUS: The c.59A>C (p.Q20P) variant in PAH has been reported in one Chinese patient with PKU (PMID: 26503515), however no genotype information was provided for this patient. This variant is absent from population databases, including gnomAD, ESP, and 1000 Genomes. Computation predictors are inconclusive on protein structure and function. In summary, this variant meets the criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP4_M.

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