Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815971 | SCV000956454 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-11-01 | 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu747*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002427015 | SCV002730976 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-01 | criteria provided, single submitter | clinical testing | The c.2239delC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2239, causing a translational frameshift with a predicted alternate stop codon (p.L747*). 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, |
RCV003453717 | SCV004187198 | pathogenic | Lynch syndrome 5 | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |