Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472881 | SCV000550938 | uncertain significance | Charcot-Marie-Tooth disease, type 2 | 2016-04-02 | criteria provided, single submitter | clinical testing | 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GARS-related disease. 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: "Benign"; Align-GVGD: "Class C25"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000764712 | SCV000895846 | uncertain significance | Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 | 2018-10-31 | criteria provided, single submitter | clinical testing |