ClinVar Miner

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

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 RCV001269059 SCV001448256 pathogenic Phenylketonuria 2020-07-24 reviewed by expert panel curation The c.912+1G>T variant is a canonical splice donor in PAH in which exon skipping disrupts the reading frame and is predicted to undergo nonsense mediated-decay. This variant was identified in 1 patient with PAH deficiency in a Catalonian cohort (PMID 10598814). This variant is absent from population databases. In summary, c.912+1G>T in PAH meets criteria to be classified as pathogenic. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, and PP4.

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