ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1387-?_1510+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076146 SCV000107157 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000258042 SCV000260712 pathogenic Lynch syndrome 2016-05-27 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exon 9 of the MSH2 gene. Deletion of exon 9 is expected to cause a frameshift and result in an absent or disrupted protein product. Deletions of exon 9 have been reported in patients affected with Lynch syndrome (PMID: 18931482, 20591884, 15342696). For these reasons, this variant has been classified as Pathogenic.

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