Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074912 | SCV000108124 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV002513798 | SCV003209029 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-06-13 | 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: 89444). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 17117178). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1236Glufs*2) 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). |