ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.217A>T (p.Lys73Ter) (rs770110491)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630177 SCV000751133 pathogenic Hereditary nonpolyposis colon cancer 2017-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys73*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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). For these reasons, this variant has been classified as Pathogenic.

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