Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205091 | SCV001376327 | pathogenic | Townes syndrome | 2019-08-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is expected to result in a truncated protein lacking all double zinc finger (DZF) domains which are critical for SALL1 protein function (PMID: 16088922, 9973281) This variant has not been reported in the literature in individuals with SALL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SALL1 gene (p.Gln291*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1034 amino acids of the SALL1 protein. |
Neonatal Intensive Care Unit, |
RCV003322867 | SCV004027623 | likely pathogenic | Townes-Brocks syndrome 1 | 2023-07-13 | criteria provided, single submitter | clinical testing |