Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV006465528 | SCV007353434 | uncertain significance | not provided | 2026-01-27 | 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 658 of the SPTBN2 protein (p.Arg658Gln). This variant is present in population databases (rs753491527, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SPTBN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 915288). 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 SPTBN2 protein function with a negative predictive value of 80%. 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 | RCV005742171 | SCV006434556 | uncertain significance | Inborn genetic diseases | 2025-06-24 | criteria provided, single submitter | clinical testing | The c.1973G>A (p.R658Q) alteration is located in exon 14 (coding exon 13) of the SPTBN2 gene. This alteration results from a G to A substitution at nucleotide position 1973, causing the arginine (R) at amino acid position 658 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV001169870 | SCV001528666 | uncertain significance | Spinocerebellar ataxia type 5 | 2018-05-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Genomic Research Center, |
RCV001169870 | SCV001251779 | likely benign | Spinocerebellar ataxia type 5 | 2020-05-03 | criteria provided, single submitter | clinical testing |