ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1718C>G (p.Pro573Arg)

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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 RCV002575728 SCV002936917 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 573 of the STXBP2 protein (p.Pro573Arg). This variant is present in population databases (rs768637937, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of hemophagocytic lymphohistiocytosis (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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 expected to disrupt STXBP2 protein function. 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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