ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)

gnomAD frequency: 0.00001  dbSNP: rs730881820
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160730 SCV000211364 benign not specified 2014-10-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000492002 SCV000580284 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 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 RCV000160730 SCV000601583 uncertain significance not specified 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000548816 SCV000624901 benign Hereditary nonpolyposis colorectal neoplasms 2023-12-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000492002 SCV000690385 likely benign Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149979 SCV003837655 likely benign Breast and/or ovarian cancer 2023-01-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998516 SCV004835112 likely benign Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing

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