Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269565 | SCV001449641 | pathogenic | not provided | 2016-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000083252 | SCV001577802 | pathogenic | Familial hemophagocytic lymphohistiocytosis 4 | 2023-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 58 of the STX11 protein (p.Leu58Pro). This variant is present in population databases (rs431905512, gnomAD 0.007%). This missense change has been observed in individuals with hemophagocytic lymphohistiocytosis (PMID: 24459464, 26004995; Invitae). ClinVar contains an entry for this variant (Variation ID: 97001). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt STX11 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects STX11 function (PMID: 24459464). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000083252 | SCV000115331 | pathogenic | Familial hemophagocytic lymphohistiocytosis 4 | 2014-01-14 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000083252 | SCV001133261 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 4 | 2019-09-26 | no assertion criteria provided | clinical testing |