Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000517891 | SCV000613377 | uncertain significance | not specified | 2017-06-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000653904 | SCV000775794 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2019-09-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 391 of the GARS protein (p.Arg391Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs370057212, ExAC 0.009%). This variant has been reported in an individual affected with Charcot Marie Tooth disease (PMID: 24078732). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |
| Inherited Neuropathy Consortium | RCV000789778 | SCV000929162 | likely benign | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
| Genesis Genome Database | RCV000789778 | SCV000999758 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |