ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.264dup (p.Val89fs) (rs267607920)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168462 SCV000219161 pathogenic Lynch syndrome 2014-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 89 (p.Val89Cysfs*11). It is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in MSH2 are known to be pathogenic (PMID:24362816, 15849733).

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