ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) (rs1567182193)

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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 RCV000756528 SCV000884363 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing The PKD1 c.7987C>T; p.Gln2663Ter variant is reported in the literature in individuals with autosomal dominant polycystic kidney disease (ADPKD) (Audrezet 2012, Jin 2016), and found to occur de novo (Audrezet 2012). This variant is absent from the 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, this 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. Jin M et al. System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. Sci Rep. 2016 Oct 26;6:35945.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095629 SCV001251267 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4, PP5

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