Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001379906 | SCV001577804 | likely pathogenic | Charcot-Marie-Tooth disease type 2 | 2020-10-19 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of GARS-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 637542). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 211 of the GARS protein (p.Cys211Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. |
| Inherited Neuropathy Consortium | RCV000789771 | SCV000929155 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
| Inherited Neuropathy Consortium Ii, |
RCV003447256 | SCV004174550 | uncertain significance | Charcot-Marie-Tooth disease type 2D | 2016-01-06 | no assertion criteria provided | literature only |