ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) (rs1596514027)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002258 SCV001160134 pathogenic Polycystic kidney disease, adult type 2018-11-23 criteria provided, single submitter clinical testing The PKD1 c.9585G>A; p.Trp3195Ter variant is reported in the literature in an individual affected with autosomal dominant polycystic kidney disease (ADPKD) (Neumann 2013). This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, another nonsense variant at the same codon, c.9584G>A; p.Trp3195Ter, has been reported in an individual with ADPKD (Obeidova 2014). The c.9585G>A; p.Trp3195Ter variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Based on available information, this variant is considered to be pathogenic. References: Neumann HP et al. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant. 2013 Jun;28(6):1472-87. Obeidova L et al. Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. BMC Med Genet. 2014 Apr 3;15:41.

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