Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634150 | SCV000755449 | pathogenic | Townes syndrome | 2017-12-22 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the SALL1 gene (p.Leu289*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1036 amino acids (~78%) of the SALL1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a SALL1-related disease. This variant is expected to result in a truncated protein lacking all DZF domains which are critical for SALL1 protein function. For these reasons, this variant has been classified as Pathogenic. |