ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro)

dbSNP: rs746460070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581814 SCV001811801 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002476893 SCV002783188 likely pathogenic Polycystic kidney disease, adult type 2024-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394154 SCV004119424 uncertain significance PKD1-related disorder 2022-09-21 criteria provided, single submitter clinical testing The PKD1 c.8999G>C variant is predicted to result in the amino acid substitution p.Arg3000Pro. 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. However, other missense changes affecting the same amino acid residue (p.Arg3000Cys, p.Arg3000Cys) have been reported in patients with AD polycystic kidney disease phenotypes, however in both cases an additional variant in PKD1 was also reported (P71, Supplementary Table 2, Domingo-Gallego et al. 2022. PubMed ID: 33532864; P21, Table 2, Durkie et al. 2021. PubMed ID: 33168999). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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