ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1376G>A (p.Arg459Gln)

gnomAD frequency: 0.00005  dbSNP: rs201164454
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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 RCV000807776 SCV000947848 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 459 of the STXBP2 protein (p.Arg459Gln). This variant is present in population databases (rs201164454, gnomAD 0.05%), including at least one homozygous and/or hemizygous individual. 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: 652253). 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. 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 RCV002537269 SCV003729215 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.1376G>A (p.R459Q) alteration is located in exon 16 (coding exon 16) of the STXBP2 gene. This alteration results from a G to A substitution at nucleotide position 1376, causing the arginine (R) at amino acid position 459 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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