Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987167 | SCV001136399 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000987167 | SCV004185750 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. |
Laboratory for Molecular Medicine, |
RCV004017768 | SCV004847960 | pathogenic | Lynch syndrome | 2017-08-11 | criteria provided, single submitter | clinical testing | The c.1039-7_1040del variant in MLH1 has not been previously reported in individuals with Lynch syndrome. Data from large population studies is insufficient to assess the frequency of this variant. This deletion is located in the 3' splice region and spans into two nucleotides in the exon. This is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, this variant meets criteria to be classified as pathogenic for Lynch syndrome in an autosomal dominant manner based on the predicted impact of the variant. |