ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3321T>G (p.Asp1107Glu)

gnomAD frequency: 0.00001  dbSNP: rs1258021186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582580 SCV000690345 uncertain significance Hereditary cancer-predisposing syndrome 2020-11-16 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 1107 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 2/251396 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.
Invitae RCV000808125 SCV000948217 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582580 SCV002606117 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-15 criteria provided, single submitter clinical testing The p.D1107E variant (also known as c.3321T>G), located in coding exon 5 of the MSH6 gene, results from a T to G substitution at nucleotide position 3321. The aspartic acid at codon 1107 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well 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.
All of Us Research Program, National Institutes of Health RCV004002352 SCV004835047 uncertain significance Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glutamic acid at codon 1107 of the MSH6 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 2/251396 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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