ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.707-1G>C

dbSNP: rs62507269
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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 RCV001269073 SCV001448297 pathogenic Phenylketonuria 2020-10-15 reviewed by expert panel curation This c.707-1G>C (aka IVS6-1G>C) variant in PAH has been observed in one patient with classic PKU, in trans with pathogenic variant c.441+5G>T (PMID: 30159852). This variant is absent from controls in population databases. This variant in the -1 splice acceptor site of intron 6 results in exon skipping or use of a cryptic splice site. The variant disrupts the reading frame and is predicted to undergo nonsense mediated decay. This variant breaks the splice site in intron 6 according to computational models. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, and PP4.

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