ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1970A>G (p.Gln657Arg)

gnomAD frequency: 0.00001  dbSNP: rs1459883720
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534112 SCV000624708 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569127 SCV000669925 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-12 criteria provided, single submitter clinical testing The p.Q657R variant (also known as c.1970A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 1970. The glutamine at codon 657 is replaced by arginine, 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.
Color Diagnostics, LLC DBA Color Health RCV000569127 SCV000685243 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-12 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 657 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 hereditary cancer in the literature. This variant has been identified in 2/251144 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.
Revvity Omics, Revvity RCV003488656 SCV004236387 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003668 SCV004838203 uncertain significance Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 657 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 hereditary cancer in the literature. This variant has been identified in 2/251144 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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