Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227347 | SCV001399700 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-10-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant has not been reported in the literature in individuals with MSH6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu645Hisfs*10) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002411838 | SCV002721013 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-17 | criteria provided, single submitter | clinical testing | The c.1933_1949del17 pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of 17 nucleotides at nucleotide positions 1933 to 1949, causing a translational frameshift with a predicted alternate stop codon (p.E645Hfs*10). 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, |
RCV003449716 | SCV004187347 | pathogenic | Lynch syndrome 5 | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |