Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003603985 | SCV004551769 | pathogenic | Familial hemophagocytic lymphohistiocytosis 3 | 2023-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with UNC13D-related conditions (PMID: 30104219). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr541Aspfs*5) 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). |