ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1316-1G>C

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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 RCV002509879 SCV002818523 likely pathogenic Phenylketonuria 2022-12-09 reviewed by expert panel curation This variant c.1316-1G>C in PAH was detected in a patient with classic PKU with the pathogenic variant p.Arg243Gln (PMID: 28982351). This variant was absent in population databases. This is a canonical variant in the -1 splice acceptor of intron 12; this would alter a region that is critical to protein function with nonsense mediated decay not predicted. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1_Strong, PM2, PM3, PP4.

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