ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) (rs63749991)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205315 SCV000260058 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 281 (p.Ser281*). It is expected to result in an absent or disrupted protein product. Truncating variants in MSH2 are known to be pathogenic. This particular truncation has been reported in individuals affected with Lynch syndrome (PMID: 17653898, 21311894). In each of the affected individuals, the tumors were reported as MSI-H and negative for MSH2 and MSH6 proteins. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491522 SCV000580389 pathogenic Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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