Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001449 | SCV001158691 | pathogenic | not specified | 2019-03-15 | criteria provided, single submitter | clinical testing | The MSH6 c.2429delA; p.Glu810fs variant, to our knowledge, is not reported in the medical literature or gene-specific databases. However, ARUP Laboratories has detected this variant in an individual with a personal and family histry of colon cancer. The variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic. |
Ambry Genetics | RCV002445160 | SCV002735275 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-26 | criteria provided, single submitter | clinical testing | The c.2429delA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2429, causing a translational frameshift with a predicted alternate stop codon (p.E810Gfs*3). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). MSH6 c.2429delA has been observed in at least one individual with a personal and/or family history that is consistent with Lynch syndrome-related disease (Ambry internal data). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003455041 | SCV004188282 | pathogenic | Lynch syndrome 5 | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |