ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.41del (p.Asp14fs)

dbSNP: rs1474473957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV001849893 SCV002107156 likely pathogenic Polycystic kidney disease 2 2022-03-05 criteria provided, single submitter clinical testing The c.41delA;p.(Asp14Alafs*16) is a null frameshift variant (NMD) in the PKD2 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevant exon to the transcript - PVS1. This variant is not present in population databases (rs1474473957- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br.) - PM2. In summary, the currently available evidence indicates that the variant is likely pathogenic.
PreventionGenetics, part of Exact Sciences RCV003401761 SCV004104922 uncertain significance PKD2-related disorder 2023-07-09 criteria provided, single submitter clinical testing The PKD2 c.41delA variant is predicted to result in a frameshift and premature protein termination (p.Asp14Alafs*16). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is located in the first exon and no protein-truncating variants upstream are documented in the literature. Furthermore, multiple ATG codons are present downstream of the c.41del variant in the first exon. Taken together, although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV001849893 SCV005669956 uncertain significance Polycystic kidney disease 2 2024-04-03 criteria provided, single submitter clinical testing

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