ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) (rs1596563657)

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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 RCV001002003 SCV001159818 pathogenic Polycystic kidney disease, adult type 2018-07-13 criteria provided, single submitter clinical testing The PKD1 c.3346C>T; p.Gln1116Ter variant has been described in at least one individual with autosomal dominant polycystic kidney disease (ADPKD; Neumann 2013). It 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. Additionally, several downstream truncating variants have been reported in individuals affected with ADPKD and are considered pathogenic (Audrezet 2012, Neumann 2013). Based on available information, this variant is considered 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. Neumann H et al. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant. 2013 Jun;28(6):1472-87.
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) RCV001002003 SCV001337695 pathogenic Polycystic kidney disease, adult type 2020-01-20 criteria provided, single submitter clinical testing Kidney transplantation at 58 years old. Bilateral kidney and liver cysts.

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