ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1354G>A (p.Gly452Arg)

gnomAD frequency: 0.00008  dbSNP: rs148777693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730684 SCV000858438 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804242 SCV000944140 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 452 of the STXBP2 protein (p.Gly452Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 595195). 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.
Ambry Genetics RCV004026995 SCV004960634 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.1354G>A (p.G452R) alteration is located in exon 15 (coding exon 15) of the STXBP2 gene. This alteration results from a G to A substitution at nucleotide position 1354, causing the glycine (G) at amino acid position 452 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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