ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1654G>C (p.Glu552Gln)

dbSNP: rs757368965
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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 RCV002022623 SCV002292526 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-07-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 1503019). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 552 of the STXBP2 protein (p.Glu552Gln).

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