ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1452+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003041346 SCV003442701 likely pathogenic Familial hemophagocytic lymphohistiocytosis 5 2023-08-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 2138203). This variant is also known as c.1485+1G>A, c.1443+1G>A. Disruption of this splice site has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 27848944, 31130284, 32542393). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 16 of the STXBP2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STXBP2 are known to be pathogenic (PMID: 19804848, 22451424).
Baylor Genetics RCV003041346 SCV004205646 pathogenic Familial hemophagocytic lymphohistiocytosis 5 2023-05-26 criteria provided, single submitter clinical testing

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