ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1732G>A (p.Asp578Asn)

gnomAD frequency: 0.00001  dbSNP: rs1187716105
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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 RCV001917003 SCV002194808 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 578 of the STXBP2 protein (p.Asp578Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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