Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003603960 | SCV004548868 | uncertain significance | Exostoses, multiple, type 2 | 2023-06-27 | criteria provided, single submitter | clinical testing | 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EXT2 protein function. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 465 of the EXT2 protein (p.Arg465Gln). |
Ambry Genetics | RCV004374312 | SCV004866114 | uncertain significance | Inborn genetic diseases | 2024-01-23 | criteria provided, single submitter | clinical testing | The c.1394G>A (p.R465Q) alteration is located in exon 9 (coding exon 8) of the EXT2 gene. This alteration results from a G to A substitution at nucleotide position 1394, causing the arginine (R) at amino acid position 465 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |