Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001210685 | SCV001382183 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp184*) 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). This variant is present in population databases (rs754292065, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 21755595, 24470399, 25573973). ClinVar contains an entry for this variant (Variation ID: 940988). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV002275318 | SCV002563437 | pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | UNC13D: PVS1, PM2, PM3 |
DASA | RCV001210685 | SCV002588774 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.551G>A;p.Trp184* variant creates a premature translational stop signal in the UNC13D gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (Clinvar ID: 40988) - PS4_supporting. The variant is present at low allele frequencies population databases (rs754292065 – gnomAD 0.0001068%; ABraOM no frequency - https://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic. |