ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) (rs1567191534)

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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 RCV000756531 SCV000884366 pathogenic not provided 2018-06-21 criteria provided, single submitter clinical testing The PKD1 c.6736C>T; p.Gln2246Ter variant has been described in individuals with autosomal dominant polycystic kidney disease (ADPKD; see link to Mayo ADPKD database, Trujillano 2014). 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, truncating nonsense and frameshift variants in PKD1 are a common mechanism of disease, and several truncating variants downstream from codon 2246 have been described in individuals with ADPKD (Rossetti 2007, Trujillano 2014). Based on available information, this variant is considered pathogenic. References: Link to Mayo ADPKD database: Rossetti S et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007 Jul;18(7):2143-60. Trujillano D et al. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. Mol Genet Genomic Med. 2014 Sep;2(5):412-21.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001029873 SCV001192662 pathogenic Polycystic kidney disease, adult type 2019-11-26 no assertion criteria provided clinical testing

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