Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001900762 | SCV002141526 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 5 | 2025-01-07 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 503 of the STXBP2 protein (p.Ala503Thr). This variant is present in population databases (rs374882127, gnomAD 0.003%). 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: 1375045). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt STXBP2 protein function with a negative predictive value of 95%. 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 | RCV004681282 | SCV005167493 | uncertain significance | Inborn genetic diseases | 2024-03-28 | criteria provided, single submitter | clinical testing | The c.1507G>A (p.A503T) alteration is located in exon 17 (coding exon 17) of the STXBP2 gene. This alteration results from a G to A substitution at nucleotide position 1507, causing the alanine (A) at amino acid position 503 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Breakthrough Genomics, |
RCV004693840 | SCV005192537 | uncertain significance | not provided | criteria provided, single submitter | not provided |