ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)

gnomAD frequency: 0.00002  dbSNP: rs367584549
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Total submissions: 6
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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
GeneDx 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 (formerly Invitae), Labcorp 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, Revvity RCV000656263 SCV003813442 uncertain significance not provided 2023-07-24 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 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

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