ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1073A>G (p.Lys358Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003085156 SCV003484854 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 358 of the STXBP2 protein (p.Lys358Arg). This variant is present in population databases (rs757736045, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. 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. 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.

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