ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.569_579del (p.Arg190fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004823158 SCV005443022 pathogenic not provided 2024-07-02 criteria provided, single submitter clinical testing Frameshift 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); Identified in a patient with features of IBA57-related mitochondrial disorder referred for genetic testing at GeneDx (PMID: 37903659); This variant is associated with the following publications: (PMID: 37903659)
OMIM RCV003459885 SCV004190195 pathogenic Multiple mitochondrial dysfunctions syndrome 3 2023-12-22 no assertion criteria provided literature only

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