Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068095 | SCV001233185 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2022-02-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 861544). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This sequence change creates a premature translational stop signal (p.Ile293*) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). |