ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3807C>T (p.Cys1269=)

gnomAD frequency: 0.00004  dbSNP: rs747924946
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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 RCV000221124 SCV000277456 likely benign Hereditary cancer-predisposing syndrome 2015-07-18 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 RCV000459648 SCV000551131 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221124 SCV000690409 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284184 SCV001469826 likely benign not provided 2020-04-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541355 SCV004797229 likely benign MSH6-related disorder 2022-06-02 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 RCV003998032 SCV004835145 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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