Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003016788 | SCV003319824 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 4 | 2022-03-01 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with STX11-related conditions. This variant is present in population databases (rs141499372, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 197 of the STX11 protein (p.Val197Leu). |