Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074785 | SCV000107996 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Clinical Genetics and Genomics, |
RCV001269714 | SCV001449914 | pathogenic | not provided | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003450951 | SCV004187386 | pathogenic | Lynch syndrome 5 | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Invitae | RCV003593871 | SCV004293916 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu951Ilefs*12) 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 variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 17312306). ClinVar contains an entry for this variant (Variation ID: 89320). For these reasons, this variant has been classified as Pathogenic. |