ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly)

dbSNP: rs753879238
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001884165 SCV002154665 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-06-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 235 of the STXBP2 protein (p.Arg235Gly). This variant is present in population databases (no rsID available, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of hemophagocytic lymphohistiocytosis (PMID: 32542393). ClinVar contains an entry for this variant (Variation ID: 1387655). 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"). This variant disrupts the p.Arg235 amino acid residue in STXBP2. Other variant(s) that disrupt this residue have been observed in individuals with STXBP2-related conditions (PMID: 26684649, 27781387, 34249802; Invitae), which suggests that this may be a clinically significant amino acid residue. 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.
Baylor Genetics RCV001884165 SCV004205644 likely pathogenic Familial hemophagocytic lymphohistiocytosis 5 2023-05-26 criteria provided, single submitter clinical testing

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