Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Elsea Laboratory, |
RCV001250071 | SCV001424183 | uncertain significance | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001879771 | SCV002148116 | uncertain significance | Peroxisome biogenesis disorder | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 237 of the PEX16 protein (p.Leu237Arg). This variant is present in population databases (rs753577538, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PEX16-related conditions. ClinVar contains an entry for this variant (Variation ID: 973450). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX16 protein function. 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. |