Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386471 | SCV001586704 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 578993). This variant has not been reported in the literature in individuals affected with KIAA2022-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu751Lysfs*9) in the KIAA2022 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA2022 are known to be pathogenic (PMID: 23615299). |