ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1662-?_*(1_?)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 RCV000196400 SCV000253802 pathogenic Lynch syndrome 2015-03-19 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 11-16 of the MSH2 gene. Truncating variants in MSH2 are known to be pathogenic. This particular truncation has been reported in the literature (PMID: PMID: 24039744, 17582678). This variant was reported to segregate with disease in a family with Lynch syndrome (PMID: 17582678). This variant has been classified as Pathogenic by InSiGHT group (http://insight-group.org/) For these reasons, this variant has been classified as Pathogenic.

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