ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1037A>T (p.His346Leu)

gnomAD frequency: 0.00001  dbSNP: rs765133484
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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 RCV001866583 SCV002117642 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2021-12-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. This variant is present in population databases (rs765133484, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 346 of the STXBP2 protein (p.His346Leu). 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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