Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264549 | SCV002543129 | likely pathogenic | Autoinflammatory syndrome | 2017-05-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003603116 | SCV004537313 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2022-12-07 | 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: 1694203). This premature translational stop signal has been observed in individual(s) with clinical features of hemophagocytic lymphohistiocytosis (PMID: 32542393). This variant is present in population databases (rs747180228, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg411Serfs*32) in the UNC13D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNC13D are known to be pathogenic (PMID: 14622600). |