ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6795C>A (p.Tyr2265Ter) (rs1312494071)

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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 RCV001000964 SCV001158063 pathogenic Polycystic kidney disease, adult type 2018-12-10 criteria provided, single submitter clinical testing The PKD1 c.6795C>A; p.Tyr2265Ter variant, is reported in the literature in individuals affected with polycystic kidney disease (Garcia-Gonzalez 2007). 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.Tyr2265Ter variant is considered to be pathogenic. References: Garcia-Gonzalez MA et al. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab. 2007 Sep-Oct;92(1-2):160-7.

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