Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001875843 | SCV002232930 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-10-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs747462107, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Gly137Argfs*24) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 919269). |