ClinVar Miner

Submissions for variant NC_000002.12:g.47806780del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015194 SCV004827891 uncertain significance Lynch syndrome 2023-08-28 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 10 of the MSH6 gene, creating a frameshift and premature translation stop signal. This mutant transcript is predicted to escape nonsense-mediated decay and be expressed as a truncated protein with the C-terminal 26 amino acids replace by 10 different residues. However, the clinical relevance of the loss of this C-terminal region is not known. 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). Loss of MSH6 function is a known mechanism of disease (clinicalgenome.org). 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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