ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2853+5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005358134 SCV005916292 uncertain significance Polycystic kidney disease, adult type 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004729827 SCV005335580 uncertain significance PKD1-related disorder 2024-06-16 no assertion criteria provided clinical testing The PKD1 c.2853+5G>A variant is predicted to interfere with splicing. This variant was reported in an individual with autosomal dominant polycystic kidney disease (ADPKD) (Elliott et al. 2021. PubMed ID: 34733539, Supplementary Table 1). This variant has not been reported in a large population database , indicating it is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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