Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000613429 | SCV000712861 | uncertain significance | not specified | 2017-02-20 | criteria provided, single submitter | clinical testing | The p.Glu153Lys variant in MLH1 has not been previously reported in individuals with colorectal cancer and was absent from large population studies. Computation al prediction tools and conservation analysis suggest that the p.Glu153Lys varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Glu153Lys variant is uncertain. |