ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1158G>T (p.Met386Ile)

dbSNP: rs2146226431
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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 RCV001940618 SCV002190725 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2020-11-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STXBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 386 of the STXBP2 protein (p.Met386Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine. 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: "Tolerated"; 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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