ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) (rs202110519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992584 SCV001144986 pathogenic not provided 2018-11-09 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000938 SCV001158037 pathogenic Polycystic kidney disease, adult type 2018-11-30 criteria provided, single submitter clinical testing The PKD1 c.4797C>A; p.Tyr1599Ter variant is reported in the literature in multiple individuals affected with autosomal dominant polycystic kidney disease (Audrezet 2012, Xu 2018). This variant 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 induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, the p.Tyr1599Ter variant is considered to be pathogenic. References: Audrezet MP et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012 Aug;33(8):1239-50. Xu D et al. Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. Kidney Blood Press Res. 2018;43(2):297-309.

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