ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.912+1G>C

dbSNP: rs62514956
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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 RCV001269061 SCV001448258 pathogenic Phenylketonuria 2020-07-24 reviewed by expert panel curation The c.912+1G>C variant in PAH is a canonical splice donor in which exon skipping disrupts the reading frame and is predicted to undergo nonsense mediated-decay. This variant was reported in 2 patients with PKU (PMID 25550961, 31332730). Additionally, this variant is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, and PP4.

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