Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388493 | SCV001589493 | pathogenic | Legius syndrome | 2020-05-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SPRED1-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 SPRED1 gene (p.Tyr261*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 184 amino acids of the SPRED1 protein. This variant disrupts the C-terminus of the SPRED1 protein. Other variant(s) that disrupt this region (p.Gly385Ilefs*20) have been determined to be pathogenic (PMID: 19920235, 19443465, 21089071, 17704776). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |