ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.106_212-1229del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699067 SCV000827762 likely pathogenic Hereditary nonpolyposis colon cancer 2018-06-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 1 (c.106_212-1229del) of the MSH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MSH2-related disease. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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