Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000656263 | SCV001144775 | uncertain significance | not provided | 2019-02-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000656263 | SCV001985751 | uncertain significance | not provided | 2020-06-25 | 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: 28077841, 31589614) |
Labcorp Genetics |
RCV000656263 | SCV002109569 | uncertain significance | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 51 of the NARS2 protein (p.Arg51Cys). This variant is present in population databases (rs367584549, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 28077841). ClinVar contains an entry for this variant (Variation ID: 545046). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Revvity Omics, |
RCV000656263 | SCV003813442 | uncertain significance | not provided | 2023-07-24 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV000656263 | SCV000778225 | likely pathogenic | not provided | 2016-10-28 | no assertion criteria provided | clinical testing | |
OMIM | RCV000779619 | SCV000916298 | pathogenic | Combined oxidative phosphorylation defect type 24 | 2019-05-24 | no assertion criteria provided | literature only |