Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000394411 | SCV000345471 | uncertain significance | not provided | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765847 | SCV000897243 | uncertain significance | Usher syndrome, type 2C; Febrile seizures, familial, 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000394411 | SCV000967915 | likely benign | not provided | 2018-05-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000394411 | SCV001395403 | uncertain significance | not provided | 2019-09-13 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 3212 of the ADGRV1 protein (p.Ile3212Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs199833843, ExAC 0.2%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290825). 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: "Benign"; 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. |