Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003497453 | SCV004301081 | uncertain significance | Exostoses, multiple, type 2 | 2023-07-10 | 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) performed at Invitae indicates that this missense variant is not expected to disrupt EXT2 protein function. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 89 of the EXT2 protein (p.Thr89Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. |
| Ambry Genetics | RCV004369299 | SCV004866117 | uncertain significance | Inborn genetic diseases | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.265A>G (p.T89A) alteration is located in exon 2 (coding exon 1) of the EXT2 gene. This alteration results from a A to G substitution at nucleotide position 265, causing the threonine (T) at amino acid position 89 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |