ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.-2_260+3387del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357674 SCV001553208 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The precise breakpoints of this genomic alteration were not determined. However, the c.1-?_3646+?del deletion is predicted to result in deletion of exons 01-07 and to a truncated or absent protein and loss of function. Loss of function variants of the MSH6 gene are an established mechanism of disease for Lynch syndrome. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

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