ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp)

gnomAD frequency: 0.00017  dbSNP: rs746771378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659022 SCV001875173 uncertain significance not provided 2021-02-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23300259, 23431742, 22090377)
Fulgent Genetics, Fulgent Genetics RCV002477878 SCV002791387 uncertain significance Polycystic kidney disease, adult type 2021-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741051 SCV005346384 uncertain significance PKD1-related disorder 2024-08-13 no assertion criteria provided clinical testing The PKD1 c.2896C>T variant is predicted to result in the amino acid substitution p.Arg966Trp. This variant has been reported in individuals with autosomal dominant polycystic kidney disease (ADPKD) (Laleye et al. 2012. PubMed ID: 23431742; Neumann et al. 2013. PubMed ID: 23300259). Of note, a different substitution at the same amino acid position (p.Arg966Pro) was reported to segregate with ADPKD in one Chinese family (He et al. 2018. PubMed ID: 30333007) and occurred de novo in a presumably unrelated patient (Xu et al. 2018. PubMed ID: 29529603). The c.2896C>T (p.Arg966Trp) variant is reported in 0.036% of alleles in individuals of African descent in gnomAD, which is more common than being expected for a pathogenic variant. 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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