ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2925C>T (p.Asn975=)

gnomAD frequency: 0.00016  dbSNP: rs139026662
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160723 SCV000211357 benign not specified 2014-09-23 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 RCV000221101 SCV000273517 likely benign Hereditary cancer-predisposing syndrome 2015-01-22 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 RCV001084595 SCV000283772 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
Counsyl RCV000410698 SCV000488236 likely benign Lynch syndrome 5 2016-01-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000232387 SCV000601546 benign not provided 2023-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221101 SCV000685332 likely benign Hereditary cancer-predisposing syndrome 2015-12-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000160723 SCV002103391 likely benign not specified 2022-02-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000221101 SCV002535775 likely benign Hereditary cancer-predisposing syndrome 2020-08-06 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000410698 SCV004018886 benign Lynch syndrome 5 2023-03-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492657 SCV004239310 likely benign Breast and/or ovarian cancer 2022-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544471 SCV004780125 likely benign MSH6-related disorder 2019-08-13 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 RCV003998513 SCV004838989 likely benign Lynch syndrome 2023-08-23 criteria provided, single submitter clinical testing

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