Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472881 | SCV000550938 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2020-11-28 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with GARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 410310). This sequence change replaces valine with isoleucine at codon 396 of the GARS protein (p.Val396Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. |
Fulgent Genetics, |
RCV000764712 | SCV000895846 | uncertain significance | Charcot-Marie-Tooth disease type 2D; Neuronopathy, distal hereditary motor, type 5A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002248686 | SCV002517117 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |