Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819777 | SCV000960457 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-03-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with colorectal cancer (PMID: 20028993). ClinVar contains an entry for this variant (Variation ID: 662185). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr216Asnfs*3) 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). |
Myriad Genetics, |
RCV003453721 | SCV004185613 | pathogenic | Lynch syndrome 5 | 2023-08-10 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |