ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1167C>T (p.Pro389=)

gnomAD frequency: 0.00003  dbSNP: rs1042819
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082552 SCV000283704 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000234680 SCV000430959 uncertain significance Lynch syndrome 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health RCV000445727 SCV000537465 likely benign Hereditary cancer-predisposing syndrome 2015-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000445727 SCV000662363 likely benign Hereditary cancer-predisposing syndrome 2024-02-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759841 SCV000889454 likely benign not provided 2018-02-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290648 SCV001478772 likely benign not specified 2021-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000759841 SCV001894584 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000445727 SCV002535605 likely benign Hereditary cancer-predisposing syndrome 2021-10-22 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004532832 SCV004717780 likely benign MSH6-related disorder 2020-08-31 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 RCV003998706 SCV004843026 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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