ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) (rs863225395)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491337 SCV000580486 pathogenic Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000800051 SCV000939749 pathogenic Hereditary nonpolyposis colon cancer 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser767*) 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 with clinical features of Lynch syndrome (PMID: 24969397, 25213213). ClinVar contains an entry for this variant (Variation ID: 218045). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202080 SCV000257176 likely pathogenic not provided no assertion criteria provided research

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