ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1057del (p.Glu353fs)

dbSNP: rs2136636774
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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 RCV002260496 SCV002540143 likely pathogenic Phenylketonuria 2022-06-12 reviewed by expert panel curation The frameshift variant c.1057del (p.Glu353AsnfsTer47) in exon 10 creates a premature stop codon in exon 11 which is predicted to result in NMD. The variant is absent from population databases, including gnomAD. One typical PKU patient has been reported (PMID: 8069318) which BioPKU reports affiliated with this variant however the actual variant is c.1055del, so no patients have been reported with this variant. 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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