ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1176dup (p.Asn393Ter)

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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 RCV002509869 SCV002818504 pathogenic Phenylketonuria 2022-07-30 reviewed by expert panel curation The nonsense variant c.1176dup (p.Asn393Ter) occurs in exon 11 and is predicted to result in NMD. The variant is absent from population databases. At least one classical PKU patient has been reported (PMID: 20188615) homozygous for this variant. In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PM3_supporting, PP4.

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