ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10033C>T (p.Arg3345Trp)

gnomAD frequency: 0.00001  dbSNP: rs986431548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003319854 SCV004023907 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing Reported in the homozygous state in a patient with renal cysts in published literature (Tutal et al., 2023); this patient's affected sibling was noted to be heterozygous for the same variant; Not observed at significant frequency in large population cohorts (gnomAD); 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: 36657418)
PreventionGenetics, part of Exact Sciences RCV004741485 SCV005359375 uncertain significance PKD1-related disorder 2024-07-11 no assertion criteria provided clinical testing The PKD1 c.10033C>T variant is predicted to result in the amino acid substitution p.Arg3345Trp. This variant was reported to segregate with kidney disease in a family. The proband was homozygous and affected with increased renal echogenicity and renal cysts, and a sibling was heterozygous and affected with renal cysts (Sup Table 3, Tutal et al. 2024. PubMed ID: 36657418). This variant has not been reported in a large population database, indicating it is rare. 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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