ClinVar Miner

Submissions for variant NC_000016.9:g.(2142594_2142954)_(2150568_2152061)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236930 SCV005883605 pathogenic Polycystic kidney disease, adult type 2024-12-12 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 27-38 in the PKD1 gene. This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). A presumed nomenclature of c.(9397+1_9398-1)_(11156+1_11157-1)del has been designated for the purposes of this classification. The variant was absent in 21684 control chromosomes. Similar deletion has been reported in the literature in at-least one individual affected with Bilateral renal cysts (example: Bekheirnia_2021). The following publication has been ascertained in the context of this evaluation (PMID: 35368817). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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