ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9824dup (p.Thr3276fs) (rs1596512769)

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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 RCV001002657 SCV001160643 pathogenic Polycystic kidney disease, adult type 2019-06-11 criteria provided, single submitter clinical testing The PKD1 c.9824dupT; p.Thr3276fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in individuals affected with autosomal dominant polycystic kidney disease (ADPKD; Audrezet 2012, Rossetti 2007). Based on available information, this variant is considered to be pathogenic. References: Audrezet M 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. Rossetti S et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007 Jul;18(7):2143-60.

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