ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.661G>T (p.Glu221Ter)

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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 RCV003531209 SCV004317900 pathogenic Familial hemophagocytic lymphohistiocytosis 5 2023-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu221*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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