ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.135C>A (p.Gly45=)

dbSNP: rs876659020
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220037 SCV000274971 likely benign Hereditary cancer-predisposing syndrome 2015-04-07 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 RCV000464611 SCV000561459 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220037 SCV000904834 likely benign Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000220037 SCV002535620 likely benign Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477728 SCV004221143 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported 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 RCV003997888 SCV004827997 likely benign Lynch syndrome 2023-06-15 criteria provided, single submitter clinical testing

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