Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726624 | SCV000345865 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000344205 | SCV000516144 | likely benign | not specified | 2015-04-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000726624 | SCV002220445 | uncertain significance | not provided | 2021-12-03 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with NDUFB9-related conditions. This variant is present in population databases (rs780144498, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 177 of the NDUFB9 protein (p.Arg177Gln). ClinVar contains an entry for this variant (Variation ID: 291159). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |