ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) (rs1596527370)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788594 SCV000927759 likely pathogenic not provided 2018-06-21 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095609 SCV001251245 likely pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PM4, PP4, PP5
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001095609 SCV001369026 likely pathogenic Polycystic kidney disease, adult type 2019-04-09 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP3,PP4,PP5.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001095609 SCV001473282 uncertain significance Polycystic kidney disease, adult type 2019-12-20 criteria provided, single submitter clinical testing The PKD1 c.8284_8295del; p.Ile2762_Arg2765del variant, also known as 8274_8285del, is reported in the literature in an individual with sporadic polycystic kidney disease (Neumann 2012). This variant is also reported in ClinVar (Variation ID: 636689). It is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes 4 amino acids leaving the rest of the protein in-frame. Although evidence suggests this variant may be pathogenic, the currently available information is insufficient to determine this with certainty. Therefore, the clinical significance of this variant is uncertain at this time. REFERENCES Neumann HP et al. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. Int Urol Nephrol. 2012 Dec;44(6):1753-62.

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