ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1177_1178insT (p.Asn393fs)

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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 RCV002509870 SCV002818505 likely pathogenic Phenylketonuria 2022-07-30 reviewed by expert panel curation The NM_000277.3(PAH):c.1177_1178insT (p.Asn393IlefsTer2) frameshift variant has not been reported in the literature to our knowledge. This frameshift variant is in exon 11 where it creates a premature stop codon, which is predicted to result in NMD and is absent from population databases. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1 and PM2.

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