ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1245G>A (p.Gln415=)

gnomAD frequency: 0.00009  dbSNP: rs769418914
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165736 SCV000216477 likely benign Hereditary cancer-predisposing syndrome 2014-09-10 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 RCV000195953 SCV000253086 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001704206 SCV000515574 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165736 SCV000690188 likely benign Hereditary cancer-predisposing syndrome 2016-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539554 SCV004793418 likely benign MSH6-related disorder 2023-01-26 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 RCV003995447 SCV004835409 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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