ClinVar Miner

Submissions for variant NM_003764.4(STX11):c.173T>C (p.Leu58Pro)

gnomAD frequency: 0.00001  dbSNP: rs431905512
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital 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, King Abdulaziz Medical City RCV000083252 SCV001133261 uncertain significance Familial hemophagocytic lymphohistiocytosis 4 2019-09-26 no assertion criteria provided clinical testing

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