ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)

gnomAD frequency: 0.00005  dbSNP: rs63749834
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081095 SCV000166231 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163879 SCV000214468 likely benign Hereditary cancer-predisposing syndrome 2014-08-11 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.
GeneDx RCV000433073 SCV000513700 benign not specified 2015-08-04 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.
Color Diagnostics, LLC DBA Color Health RCV000163879 SCV000690362 likely benign Hereditary cancer-predisposing syndrome 2015-05-18 criteria provided, single submitter clinical testing
Counsyl RCV000662442 SCV000784907 likely benign Lynch syndrome 5 2017-02-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000524179 SCV001134434 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Mendelics RCV000662442 SCV001135839 likely benign Lynch syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000662442 SCV001297514 uncertain significance Lynch syndrome 5 2018-02-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433073 SCV001737654 likely benign not specified 2021-06-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163879 SCV002528038 likely benign Hereditary cancer-predisposing syndrome 2020-10-02 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000662442 SCV004018959 benign Lynch syndrome 5 2023-03-29 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 RCV004542743 SCV004762909 likely benign MSH6-related disorder 2020-09-03 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 RCV003997091 SCV004835079 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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