ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs) (rs1578147458)

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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 RCV001002238 SCV001160113 likely pathogenic Polycystic kidney disease 2 2018-11-16 criteria provided, single submitter clinical testing The PKD2 c.2245_2254dupGGCCATACTG; p.Asp752fs variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant 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 causes a frameshift by duplicating 10 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, other frameshift variants in this region are described as pathogenic or likely pathogenic in the ClinVar database (see link below). Considering available information, this variant is classified as likely pathogenic. References: Link to PKD2 variants in PKD2: http://www.ncbi.nlm.nih.gov/clinvar/?term=PKD2%5Bgene%5D

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