Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000825862 | SCV000967346 | uncertain significance | not specified | 2019-01-02 | criteria provided, single submitter | clinical testing | The p.Leu5644Pro variant in ADGRV1 has been previously reported by our laborator y in 1 individual with hearing loss who had a second variant of uncertain signif icance in ADGRV1 in trans. This variant was absent from large population studies . Computational prediction tools and conservation analysis suggest that this var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM3_Supporting. |
| Invitae | RCV001343950 | SCV001537970 | uncertain significance | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 667190). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 5644 of the ADGRV1 protein (p.Leu5644Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. |