Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002927038 | SCV003256668 | pathogenic | Hyper-IgM syndrome type 5 | 2021-12-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg84Lysfs*59) in the UNG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNG are known to be pathogenic (PMID: 12958596). This variant has not been reported in the literature in individuals affected with UNG-related conditions. For these reasons, this variant has been classified as Pathogenic. |