ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1653C>G (p.Tyr551Ter)

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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 RCV003024748 SCV003336512 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-04-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr551*) in the STXBP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the STXBP2 protein. This variant is present in population databases (rs767500700, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. This variant disrupts a region of the STXBP2 protein in which other variant(s) (p.Gly566Asp) have been observed in individuals with STXBP2-related conditions (PMID: 22796692, 31976148). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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