ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.80del (p.Glu27fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464654 SCV004205650 likely pathogenic Familial hemophagocytic lymphohistiocytosis 5 2023-03-04 criteria provided, single submitter clinical testing
Invitae RCV003464654 SCV004624726 pathogenic Familial hemophagocytic lymphohistiocytosis 5 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu27Glyfs*51) in the STXBP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STXBP2 are known to be pathogenic (PMID: 19804848, 22451424). This variant is present in population databases (rs747556765, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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