ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1549G>T (p.Gly517Cys)

dbSNP: rs200026300
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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 RCV001901156 SCV002160477 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 517 of the STXBP2 protein (p.Gly517Cys). This variant is present in population databases (rs200026300, gnomAD 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.

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