ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3711G>A (p.Glu1237=)

gnomAD frequency: 0.00002  dbSNP: rs754289472
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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 RCV000164104 SCV000214717 likely benign Hereditary cancer-predisposing syndrome 2018-09-29 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 RCV000228366 SCV000283814 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164104 SCV000685433 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV001567258 SCV001790910 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535092 SCV004748434 likely benign MSH6-related disorder 2023-07-18 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 RCV003995314 SCV004835118 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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