Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001882099 | SCV002166572 | uncertain significance | Mucopolysaccharidosis type 6 | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 180 of the ARSB protein (p.Arg180His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs139788949, ExAC 0.006%). This variant has not been reported in the literature in individuals with ARSB-related conditions. 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 ARSB 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 | RCV003166982 | SCV003899275 | uncertain significance | Inborn genetic diseases | 2023-01-24 | criteria provided, single submitter | clinical testing | The c.539G>A (p.R180H) alteration is located in exon 3 (coding exon 3) of the ARSB gene. This alteration results from a G to A substitution at nucleotide position 539, causing the arginine (R) at amino acid position 180 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |