ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.244_246del (p.Lys82del)

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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 RCV003014080 SCV003309967 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-02-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.244_246del, results in the deletion of 1 amino acid(s) of the STXBP2 protein (p.Lys82del), but otherwise preserves the integrity of the reading frame.

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