Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001229068 | SCV001401500 | uncertain significance | not provided | 2024-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 976 of the ADGRA3 protein (p.Met976Val). This variant is present in population databases (rs200785534, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ADGRA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 956293). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 | RCV004609681 | SCV005104925 | uncertain significance | not specified | 2024-04-29 | criteria provided, single submitter | clinical testing | The c.2926A>G (p.M976V) alteration is located in exon 19 (coding exon 19) of the ADGRA3 gene. This alteration results from a A to G substitution at nucleotide position 2926, causing the methionine (M) at amino acid position 976 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004813924 | SCV005072862 | uncertain significance | Retinal dystrophy | 2022-01-01 | no assertion criteria provided | clinical testing |