Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727649 | SCV000854945 | pathogenic | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001862131 | SCV002143640 | pathogenic | Legius syndrome | 2021-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SPRED1 protein in which other variant(s) (p.Gly385Ilefs*20) have been determined to be pathogenic (PMID: 17704776, 21089071). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 592540). This variant has not been reported in the literature in individuals affected with SPRED1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln339*) in the SPRED1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the SPRED1 protein. |