Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002648061 | SCV003522580 | uncertain significance | Desbuquois dysplasia 1 | 2022-04-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 173 of the XYLT1 protein (p.Gln173Glu). This variant is present in population databases (rs771721270, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with XYLT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV004072118 | SCV004982281 | uncertain significance | Inborn genetic diseases | 2024-02-17 | criteria provided, single submitter | clinical testing | The c.517C>G (p.Q173E) alteration is located in exon 3 (coding exon 3) of the XYLT1 gene. This alteration results from a C to G substitution at nucleotide position 517, causing the glutamine (Q) at amino acid position 173 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |