Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000791998 | SCV000931269 | uncertain significance | Desbuquois dysplasia 1 | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 47 of the XYLT1 protein (p.Gly47Arg). This variant is present in population databases (rs760732431, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with XYLT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 639251). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 | RCV002536935 | SCV003729378 | uncertain significance | Inborn genetic diseases | 2021-08-16 | criteria provided, single submitter | clinical testing | The c.139G>C (p.G47R) alteration is located in exon 1 (coding exon 1) of the XYLT1 gene. This alteration results from a G to C substitution at nucleotide position 139, causing the glycine (G) at amino acid position 47 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |