ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val)

gnomAD frequency: 0.00016  dbSNP: rs756684008
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001889533 SCV002164909 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 587 of the STXBP2 protein (p.Leu587Val). This variant is present in population databases (rs756684008, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1390378). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264417 SCV002542996 uncertain significance Autoinflammatory syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553568 SCV003653772 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.1759C>G (p.L587V) alteration is located in exon 19 (coding exon 19) of the STXBP2 gene. This alteration results from a C to G substitution at nucleotide position 1759, causing the leucine (L) at amino acid position 587 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.