ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2085del (p.Ala696fs) (rs1567212531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002156 SCV001160011 pathogenic Polycystic kidney disease, adult type 2018-09-28 criteria provided, single submitter clinical testing The PKD1 c.2085delC; p.Ala696fs variant, is reported in the literature in multiple individuals affected with autosomal dominant polycystic kidney disease (ADPKD) (Hoefele 2011, Rossetti 2001). This variant is reported as definitely pathogenic in the ADPKD mutation database (see link), and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, the p.Ala696fs variant is considered to be pathogenic. References: Link to ADPKD mutation database: http://pkdb.mayo.edu/cgi-bin/v2_desig_display.cgi?germ=Germline&gene=PKD1&designation=2085delC&clinical=Definitely%20Pathogenic&score=&gene_mutation_id=282&apkd_mode=PROD&username= Hoefele J et al. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. Rossetti S et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet. 2001 Jan;68(1):46-63.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001002156 SCV001251268 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM1, PM2,PP4

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