ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1068T>C (p.Gly356=)

gnomAD frequency: 0.00004  dbSNP: rs749752524
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162573 SCV000212989 likely benign Hereditary cancer-predisposing syndrome 2014-12-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000233342 SCV000283698 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162573 SCV000685160 likely benign Hereditary cancer-predisposing syndrome 2016-06-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586461 SCV000695772 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneKor MSA RCV000162573 SCV000821799 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001711431 SCV001940729 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31159747)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001711431 SCV004221132 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492662 SCV004239297 likely benign Breast and/or ovarian cancer 2023-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535056 SCV004715781 likely benign MSH6-related disorder 2020-12-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003995204 SCV004837614 likely benign Lynch syndrome 2023-09-04 criteria provided, single submitter clinical testing

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