ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.635T>C (p.Phe212Ser)

dbSNP: rs2031909131
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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 RCV001342162 SCV001536074 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2020-10-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STXBP2-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 212 of the STXBP2 protein (p.Phe212Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine.

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