ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1606G>A (p.Val536Met)

gnomAD frequency: 0.00001  dbSNP: rs374719886
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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 RCV001295022 SCV001483931 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 536 of the STXBP2 protein (p.Val536Met). This variant is present in population databases (rs374719886, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 999072). 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 with a positive predictive value of 80%. 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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