ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)

gnomAD frequency: 0.00001  dbSNP: rs998186339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986725 SCV001135824 likely benign Lynch syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004417 SCV004838371 uncertain significance Lynch syndrome 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 881 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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 been identified in 3/250448 chromosomes 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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