ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2194C>A (p.Arg732=)

dbSNP: rs63751127
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412439 SCV000488584 likely benign Lynch syndrome 5 2016-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563009 SCV000662491 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 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 RCV000608504 SCV000721262 likely benign not specified 2017-07-17 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.
Invitae RCV001450156 SCV001653756 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-24 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000412439 SCV004018938 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.
Color Diagnostics, LLC DBA Color Health RCV000563009 SCV004357638 likely benign Hereditary cancer-predisposing syndrome 2022-01-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996998 SCV004836185 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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