Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218716 | SCV001390612 | pathogenic | Transposition of the great arteries, dextro-looped | 2019-08-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MED13L are known to be pathogenic (PMID: 23403903). This variant has not been reported in the literature in individuals with MED13L-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu238*) in the MED13L gene. It is expected to result in an absent or disrupted protein product. |