ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.212-?_366+?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) RCV000076402 SCV000107428 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Invitae RCV000475834 SCV000563900 pathogenic Lynch syndrome 2016-10-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 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 including gross deletions in MSH2 are known to be pathogenic. A similar deletion of exon 2 has been reported in families with hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome (PMID: 16143124, 24039744, 9843200, 14729822). For these reasons, this variant has been classified as Pathogenic.

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