ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.803C>A (p.Thr268Asn)

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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 RCV003531245 SCV004318303 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 268 of the STXBP2 protein (p.Thr268Asn). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STXBP2 protein function. This variant has not been reported in the literature in individuals affected with STXBP2-related conditions.

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