Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV000764780 | SCV000895923 | uncertain significance | Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate A | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000554435 | SCV000644060 | uncertain significance | Charcot-Marie-Tooth disease, type 4A | 2018-11-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 336 of the GDAP1 protein (p.Ala336Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs140811185, ExAC 0.02%) but has not been reported in the literature in individuals with a GDAP1-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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |