ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.208A>G (p.Ser70Gly)

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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 RCV003012187 SCV003309799 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 70 of the STXBP2 protein (p.Ser70Gly). 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. This variant is present in population databases (rs781116703, gnomAD 0.003%).

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