Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001349616 | SCV001543968 | uncertain significance | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2020-11-14 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SERAC1-related disease. This variant is present in population databases (rs756639108, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 547 of the SERAC1 protein (p.Arg547His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |