ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)

gnomAD frequency: 0.00006  dbSNP: rs1057524183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428736 SCV000534798 pathogenic not provided 2019-08-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468578 SCV002764800 pathogenic Combined oxidative phosphorylation defect type 24 2021-05-06 criteria provided, single submitter clinical testing

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