ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)

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Total submissions: 3
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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 RCV003486500 SCV004241611 pathogenic Polycystic kidney disease, adult type 2023-12-22 criteria provided, single submitter clinical testing Variant summary: PKD1 c.12013C>T (p.Gln4005X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory and in ClinVar. The variant was absent in 244788 control chromosomes (gnomAD). c.12013C>T has been reported in the literature in at-least one individual affected with Polycystic Kidney Disease 1 (example: Ali_2023). The following publication has been ascertained in the context of this evaluation (PMID: 36755831). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003486500 SCV004808250 likely pathogenic Polycystic kidney disease, adult type 2024-03-29 criteria provided, single submitter clinical testing
GeneDx RCV004593309 SCV005081030 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22508176, 15772804, 22185115, 25525159, 10413889)

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