ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.843T>A (p.Pro281=)

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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 RCV002509881 SCV002818528 uncertain significance Phenylketonuria 2022-12-09 reviewed by expert panel curation This c.843T>A (p.Pro281Pro) variant in PAH was detected with the pathogenic variant c.168+5G>C in a patient with PKU (PMID:26413448). This variant was absent in population databases. This is a synonymous variant which is not predicted to have a splice-altering consequence. In summary, this variant meets criteria to be classified as a variant of unknown significance for PAH. PAH-specific ACMG/AMP criteria applied: BP7, PM3_Supporting, PM2, PP4.

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