Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801766 | SCV000941560 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-03-01 | 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.Gly1070Valfs*9) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002325541 | SCV002610337 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-14 | criteria provided, single submitter | clinical testing | The c.3209delG pathogenic mutation, located in coding exon 5 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 3209, causing a translational frameshift with a predicted alternate stop codon (p.G1070Vfs*9). 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, |
RCV003453668 | SCV004187170 | pathogenic | Lynch syndrome 5 | 2023-08-22 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |