Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996470 | SCV001151184 | likely pathogenic | not provided | 2020-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000996470 | SCV002960561 | pathogenic | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 808212). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with KIAA0753-related conditions. This variant is present in population databases (rs774799042, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg221*) in the KIAA0753 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA0753 are known to be pathogenic (PMID: 29138412). |