ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1740G>A (p.Ser580=)

gnomAD frequency: 0.00001  dbSNP: rs762089407
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228980 SCV000283725 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571069 SCV000662398 likely benign Hereditary cancer-predisposing syndrome 2016-07-06 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586985 SCV000695795 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Counsyl RCV000662378 SCV000784775 likely benign Lynch syndrome 5 2017-04-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000571069 SCV000908379 likely benign Hereditary cancer-predisposing syndrome 2017-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001651083 SCV001863816 benign not provided 2015-05-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662378 SCV004018446 benign Lynch syndrome 5 2023-03-27 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.
PreventionGenetics, part of Exact Sciences RCV004541368 SCV004772152 likely benign MSH6-related disorder 2019-07-23 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 RCV003998711 SCV004840018 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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