ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.321T>C (p.Pro107=)

gnomAD frequency: 0.00002  dbSNP: rs730881823
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212628 SCV000211377 benign not specified 2014-09-07 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.
Ambry Genetics RCV000160738 SCV000216794 likely benign Hereditary cancer-predisposing syndrome 2014-10-02 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 RCV000199409 SCV000253105 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-21 criteria provided, single submitter clinical testing
Counsyl RCV000411382 SCV000488065 likely benign Lynch syndrome 5 2015-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160738 SCV000690330 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160738 SCV002535804 likely benign Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149980 SCV003838313 likely benign Breast and/or ovarian cancer 2022-08-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000411382 SCV004018907 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477577 SCV004221214 likely benign not provided 2022-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535045 SCV004735127 likely benign MSH6-related disorder 2019-03-12 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 RCV003998519 SCV004828803 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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