Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014373 | SCV001175071 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-16 | criteria provided, single submitter | clinical testing | The c.208-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 3 in the MLH1 gene. This nucleotide position is poorly conserved in available vertebrate species. The BDGP splice prediction software predicts a weakening in the native splice acceptor site efficiency while the ESEfinder splice prediction software predicts the creation of a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |