Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697235 | SCV000825832 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2018-04-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with histidine at codon 283 of the SLC25A46 protein (p.Gln283His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs772739765, ExAC 0.003%). This variant has not been reported in the literature in individuals with SLC25A46-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, 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. |