Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001204760 | SCV001375981 | uncertain significance | not provided | 2022-10-24 | 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 1043 of the ADGRV1 protein (p.Gly1043Arg). This variant is present in population databases (rs765930768, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 936042). 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 ADGRV1 protein function. 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 | RCV003353205 | SCV004076053 | uncertain significance | Inborn genetic diseases | 2023-08-04 | criteria provided, single submitter | clinical testing | The c.3127G>A (p.G1043R) alteration is located in exon 17 (coding exon 17) of the ADGRV1 gene. This alteration results from a G to A substitution at nucleotide position 3127, causing the glycine (G) at amino acid position 1043 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |