ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1132A>C (p.Arg378=)

gnomAD frequency: 0.00001  dbSNP: rs781572949
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087055 SCV000561467 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000485270 SCV000570521 uncertain significance not provided 2023-08-05 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000568836 SCV000664867 likely benign Hereditary cancer-predisposing syndrome 2016-01-19 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.
Color Diagnostics, LLC DBA Color Health RCV000568836 SCV000911464 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290548 SCV001478617 likely benign not specified 2021-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568836 SCV002535599 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-17 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485270 SCV004221136 uncertain significance not provided 2023-06-23 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0002 (7/34574 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect MSH6 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV004002159 SCV004842980 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.