ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)

dbSNP: rs267608129
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773996 SCV000907696 likely benign Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780474 SCV000917747 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV002067281 SCV002410975 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773996 SCV002626102 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478463 SCV004222024 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in MSH6-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). 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 RCV004001341 SCV004835167 likely benign Lynch syndrome 2023-05-08 criteria provided, single submitter clinical testing

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