ClinVar Miner

Submissions for variant NC_000002.12:g.(47429942_47445547)_(47445658_47463030)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 RCV001261498 SCV001438795 pathogenic Hereditary nonpolyposis colon cancer 2019-11-13 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.(1276+1_1277-1)_(1386+1_1387-1)del variant involves the deletion of exon 8 of MSH2. The frequency of this variant in the general population could not be determined because the technology used for large population databases (ExAC, ESP, 1000G, gnomAD) does not detect deletions of this size. This variant has been reported in the literature in numerous individuals affected with Lynch Sydrome/ Hereditary Nonpolyposis colorectal cancer (HNPCC) (daSilva_2015, Susswein_2016, Casey_2005, Kurzawski_2006, etc). These data indicate that the variant is very likely to be associated with disease. One clinical diagnostic laboratory has submitted a clinical-significance assessment of pathogenic for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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