Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000662028 | SCV000784364 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000662028 | SCV001199867 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 124 of the SLC25A46 protein (p.Arg124His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs756258729, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with SLC25A46-related conditions. ClinVar contains an entry for this variant (Variation ID: 548524). 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"). 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. |