ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.442-2A>G

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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 RCV002509872 SCV002818510 pathogenic Phenylketonuria 2022-12-09 reviewed by expert panel curation This c.442-2A>G variant in PAH was detected in a patient with PKU with the pathogenic variant c.441+3G>C (PMID: 28982351). This variant was absent in population databases. This is a canonical variant in the -2 splice acceptor of intron 4. Exon skipping or use of a cryptic splice site would disrupt reading frame with nonsense mediated decay predicted. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3, PP4.

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