Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001888014 | SCV002126661 | uncertain significance | Desbuquois dysplasia 1 | 2022-10-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 573 of the XYLT1 protein (p.Gly573Ser). 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 expected to disrupt XYLT1 protein function. ClinVar contains an entry for this variant (Variation ID: 1355317). This variant has not been reported in the literature in individuals affected with XYLT1-related conditions. This variant is present in population databases (rs147101412, gnomAD 0.02%). |
| Ambry Genetics | RCV003164068 | SCV003869502 | uncertain significance | Inborn genetic diseases | 2023-02-15 | criteria provided, single submitter | clinical testing | The c.1717G>A (p.G573S) alteration is located in exon 8 (coding exon 8) of the XYLT1 gene. This alteration results from a G to A substitution at nucleotide position 1717, causing the glycine (G) at amino acid position 573 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |