Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844473 | SCV002103415 | pathogenic | Hereditary nonpolyposis colon cancer | 2022-02-23 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 12 in the MLH1 gene. A presumed nomenclature of c.(1038+1_1039-1)_(1409+1_1410-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the MLH1 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes. c.(1038+1_1039-1)_(1409+1_1410-1)del has been reported in the literature in individuals affected with Lynch Syndrome. These data indicate that the variant may be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for a similar deletion variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |