Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000074768 | SCV000107975 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Ai |
RCV002223186 | SCV002501746 | pathogenic | not provided | 2022-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433571 | SCV002745239 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-29 | criteria provided, single submitter | clinical testing | The c.2611_2614dupATTA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of ATTA at nucleotide position 2611, causing a translational frameshift with a predicted alternate stop codon (p.I872Nfs*10). This alteration, described as c.2614_2615insATTA, was identified in a patient with a MSH6-deficient colon cancer and metachronous endometrial cancer (Plaschke J et al. J Clin Oncol, 2004 Nov;22:4486-94). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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, |
RCV003450947 | SCV004187297 | pathogenic | Lynch syndrome 5 | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |