ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.835G>A (p.Val279Ile)

gnomAD frequency: 0.00003  dbSNP: rs753242709
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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 RCV000802820 SCV000942665 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 279 of the STXBP2 protein (p.Val279Ile). This variant is present in population databases (rs753242709, gnomAD 0.005%). 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: 648155). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002534723 SCV003560391 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.835G>A (p.V279I) alteration is located in exon 10 (coding exon 10) of the STXBP2 gene. This alteration results from a G to A substitution at nucleotide position 835, causing the valine (V) at amino acid position 279 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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