ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.612C>A (p.Ala204=)

dbSNP: rs113033216
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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 RCV001345293 SCV001539400 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2020-08-10 criteria provided, single submitter clinical testing This sequence change affects codon 204 of the STXBP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the STXBP2 protein. This variant is present in population databases (rs113033216, ExAC 0.002%). This variant has not been reported in the literature in individuals with STXBP2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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