Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807870 | SCV000947946 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2018-10-31 | criteria provided, single submitter | clinical testing | 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SLC25A46-related disease. This variant is present in population databases (rs768960064, ExAC 0.01%). This sequence change replaces isoleucine with phenylalanine at codon 105 of the SLC25A46 protein (p.Ile105Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. |