ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3012A>G (p.Lys1004=)

dbSNP: rs864622378
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206126 SCV000260380 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563571 SCV000662594 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 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.
GeneDx RCV000605812 SCV000726975 likely benign not specified 2018-01-24 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.
Color Diagnostics, LLC DBA Color Health RCV000563571 SCV001347204 likely benign Hereditary cancer-predisposing syndrome 2019-01-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000605812 SCV002051268 likely benign not specified 2021-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530226 SCV004714267 likely benign MSH6-related disorder 2021-11-09 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 RCV003997611 SCV004834444 likely benign Lynch syndrome 2023-10-27 criteria provided, single submitter clinical testing

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