ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.843-1G>A

dbSNP: rs1373264140
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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 RCV001375891 SCV001572847 pathogenic Phenylketonuria 2020-12-07 reviewed by expert panel curation This c.843-1G>A variant in PAH was reported in trans with pathogenic variants p.S70del and p.Arg243Gln in 2 Han Chinese patients with PAH deficiency (PMID: 28982351). This variant is present in European (non-Finnish) populations at an extremely low frequency in gnomAD (MAF=0.000008827). This variant in the -1 splice acceptor site of intron 7 disrupts the reading frame and is predicted to undergo nonsense mediated decay (NMD). The exon is present in biologically-relevant transcripts. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3 strong, PM2, PP4

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