Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000794858 | SCV000934291 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-01-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 641585). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val296Serfs*16) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). |
| Ambry Genetics | RCV002370078 | SCV002683469 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-20 | criteria provided, single submitter | clinical testing | The c.885dupA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of A at nucleotide position 885, causing a translational frameshift with a predicted alternate stop codon (p.V296Sfs*16). 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, |
RCV003453643 | SCV004187178 | pathogenic | Lynch syndrome 5 | 2023-08-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| CZECANCA consortium | RCV003128161 | SCV003804332 | pathogenic | Endometrial carcinoma | 2023-02-21 | no assertion criteria provided | clinical testing |