ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1184A>G (p.Asp395Gly)

gnomAD frequency: 0.00004  dbSNP: rs751931943
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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 RCV001303787 SCV001493045 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-10-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 395 of the STXBP2 protein (p.Asp395Gly). This variant is present in population databases (rs751931943, 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: 1006703). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STXBP2 protein function. 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 RCV002539533 SCV003562781 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.1184A>G (p.D395G) alteration is located in exon 14 (coding exon 14) of the STXBP2 gene. This alteration results from a A to G substitution at nucleotide position 1184, causing the aspartic acid (D) at amino acid position 395 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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