ClinVar Miner

Submissions for variant NM_005002.5(NDUFA9):c.199C>T (p.Arg67Ter)

gnomAD frequency: 0.00001  dbSNP: rs758574474
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002211007 SCV002496343 likely pathogenic not provided 2021-10-04 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 significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002211007 SCV002965672 uncertain significance not provided 2021-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg67*) in the NDUFA9 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NDUFA9 cause disease. This variant is present in population databases (rs758574474, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with NDUFA9-related conditions. 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.

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