ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1449G>C (p.Val483=)

dbSNP: rs35590297
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181718 SCV001346915 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001472017 SCV001676143 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-04-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004315 SCV004843588 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001181718 SCV005032854 likely benign Hereditary cancer-predisposing syndrome 2023-10-12 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 RCV005001125 SCV005626364 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing The MSH6 c.1449G>C (p.Val483=) synonymous variant has not been reported in individuals with MSH6-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect MSH6 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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