Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003645402 | SCV004375014 | pathogenic | Familial hemophagocytic lymphohistiocytosis 5 | 2023-06-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.Q346*. This premature translational stop signal has been observed in individual(s) with primary immunodeficiencies (PMID: 32531373). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln335*) 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). |