ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1344del (p.Lys449fs) (rs876658918)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222198 SCV000274765 pathogenic Hereditary cancer-predisposing syndrome 2015-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Invitae RCV000803011 SCV000942864 pathogenic Hereditary nonpolyposis colon cancer 2018-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys449Serfs*5) 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 been observed in an individual undergoing testing for Lynch syndrome (PMID: 28514183). ClinVar contains an entry for this variant (Variation ID: 231037). 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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