ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) (rs863225406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500492 SCV000592628 pathogenic Lynch syndrome 2015-08-11 criteria provided, single submitter clinical testing
Invitae RCV000554689 SCV000624833 pathogenic Hereditary nonpolyposis colon cancer 2018-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1080Valfs*12) in the MSH6 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 reported in an individual affected with endometrial cancer (PMID: 24933100). ClinVar contains an entry for this variant (Variation ID: 218060). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Color RCV000582996 SCV000690334 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000201961 SCV000257244 likely pathogenic not provided no assertion criteria provided research

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