Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380761 | SCV001578919 | pathogenic | not provided | 2022-02-24 | 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: 639644). 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.Asp169Glufs*2) 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). |