Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003463585 | SCV004205637 | likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5 | 2023-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003463585 | SCV004504262 | pathogenic | Familial hemophagocytic lymphohistiocytosis 5 | 2023-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. This variant is present in population databases (rs772141641, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu380*) in the STXBP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STXBP2 are known to be pathogenic (PMID: 19804848, 22451424). |