ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006531 SCV005640999 uncertain significance Polycystic kidney disease, adult type 2024-03-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005006531 SCV006058170 uncertain significance Polycystic kidney disease, adult type 2024-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004740141 SCV005358946 uncertain significance PKD1-related disorder 2024-04-25 no assertion criteria provided clinical testing The PKD1 c.10642C>T variant is predicted to result in the amino acid substitution p.Arg3548Cys. This variant was reported in an individual with autosomal dominant polycystic kidney disease (ADPKD) (Carrera et al. 2016. PubMed ID: 27499327, Suppl. Table S4). This variant is reported in 0.038% of alleles in individuals of African descent in gnomAD. 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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