ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.526A>G (p.Met176Val)

dbSNP: rs750327994
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167309 SCV000218156 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-29 criteria provided, single submitter clinical testing The p.M176V variant (also known as c.526A>G), located in coding exon 3 of the MSH6 gene, results from an A to G substitution at nucleotide position 526. The methionine at codon 176 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000535861 SCV000624981 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-04-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000167309 SCV000908348 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-08 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 176 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 1/251456 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.
All of Us Research Program, National Institutes of Health RCV003995581 SCV004838840 uncertain significance Lynch syndrome 2023-10-30 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 176 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 1/251456 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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