ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3609T>C (p.His1203=)

dbSNP: rs1669965072
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191763 SCV001359662 likely benign Hereditary cancer-predisposing syndrome 2020-01-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251373 SCV001426947 likely benign not specified 2020-07-29 criteria provided, single submitter clinical testing Variant summary: MSH6 c.3609T>C alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251442 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3609T>C in individuals affected with Hereditary Nonpolyposis Colorectal Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Ambry Genetics RCV001191763 SCV002615084 likely benign Hereditary cancer-predisposing syndrome 2022-08-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003594121 SCV004262272 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-30 criteria provided, single submitter clinical testing

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