ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1776A>T (p.Val592=)

gnomAD frequency: 0.00001  dbSNP: rs56132616
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162411 SCV000212747 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 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 RCV001085640 SCV000253090 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-29 criteria provided, single submitter clinical testing
Counsyl RCV000409862 SCV000488419 likely benign Lynch syndrome 5 2016-03-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162411 SCV000685227 likely benign Hereditary cancer-predisposing syndrome 2015-06-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759129 SCV000888250 benign not provided 2017-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781577 SCV000919735 likely benign not specified 2021-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000759129 SCV001859352 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162411 SCV002535659 likely benign Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000409862 SCV004018876 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.
PreventionGenetics, part of Exact Sciences RCV004544475 SCV004773767 likely benign MSH6-related disorder 2020-02-25 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 RCV003998541 SCV004840096 likely benign Lynch syndrome 2023-10-30 criteria provided, single submitter clinical testing

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