Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074927 | SCV000108140 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV003593872 | SCV004293922 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-02-06 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1258*) 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). This premature translational stop signal has been observed in individual(s) with MSH6-related conditions (PMID: 10521294, 26517685). ClinVar contains an entry for this variant (Variation ID: 89459). For these reasons, this variant has been classified as Pathogenic. |