ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.962C>T (p.Ala321Val)

gnomAD frequency: 0.00001  dbSNP: rs753737127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314971 SCV001505525 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 321 of the STXBP2 protein (p.Ala321Val). This variant is present in population databases (rs753737127, gnomAD 0.007%). 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: 1016028). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV001314971 SCV003818130 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2020-03-23 criteria provided, single submitter clinical testing

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