ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2677C>G (p.Leu893Val)

gnomAD frequency: 0.00001  dbSNP: rs370754319
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506119 SCV000601538 uncertain significance not specified 2016-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794150 SCV000933540 benign Hereditary nonpolyposis colorectal neoplasms 2023-10-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179711 SCV001344438 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 893 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 1/31390 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.
Ambry Genetics RCV001179711 SCV002744215 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-19 criteria provided, single submitter clinical testing The p.L893V variant (also known as c.2677C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 2677. The leucine at codon 893 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003551 SCV004838471 uncertain significance Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces leucine with valine at codon 893 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 1/31390 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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