ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.195A>G (p.Ser65=)

dbSNP: rs1572698398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932608 SCV001078292 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003249 SCV004818829 uncertain significance Lynch syndrome 2023-03-23 criteria provided, single submitter clinical testing This variant is located in the MSH6 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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