Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224149 | SCV000281249 | uncertain significance | not provided | 2015-06-04 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Invitae | RCV000224149 | SCV002117599 | uncertain significance | not provided | 2021-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with aspartic acid at codon 188 of the ADGRV1 protein (p.Glu188Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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: 235567). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |