ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2006-?_2210+?del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076353 SCV000107371 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000470215 SCV000563899 pathogenic Lynch syndrome 2016-10-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 13 of the MSH2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic. A gross deletion of exon 13 has been reported in the literature in a family affected with Lynch syndrome (PMID: 8062247). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000076353 SCV000590999 pathogenic Lynch syndrome 2015-03-11 criteria provided, single submitter clinical testing

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