Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001756514 | SCV001985331 | uncertain significance | not provided | 2020-12-11 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20819849, 20818383, 31130284, 30055843, 22142868) |
Invitae | RCV001756514 | SCV003523890 | uncertain significance | not provided | 2022-12-02 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 expected to disrupt NDUFS2 protein function. ClinVar contains an entry for this variant (Variation ID: 1303015). This missense change has been observed in individuals with mitochondrial complex I deficiency (PMID: 20818383, 20819849). This variant is present in population databases (rs150981760, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 333 of the NDUFS2 protein (p.Arg333Gln). |
Genome- |
RCV003346664 | SCV004048808 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 6 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003346664 | SCV004801161 | uncertain significance | Mitochondrial complex 1 deficiency, nuclear type 6 | 2024-03-14 | criteria provided, single submitter | research |