ClinVar Miner

Submissions for variant NC_000002.12:g.(?_47790917)_(47805037_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032837 SCV001196144 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-05-01 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 2-6 of the MSH6 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion has been observed in a family with clinical features of Lynch syndrome (PMID: 20028993). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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