ClinVar Miner

Submissions for variant NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)

gnomAD frequency: 0.00002  dbSNP: rs550855238
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001664619 SCV001872858 likely pathogenic not provided 2025-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30302924, 33693876, 34440194, 37288145, 22562699, 35883565)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001007641 SCV002568211 likely pathogenic Multiple mitochondrial dysfunctions syndrome 2 2022-06-15 criteria provided, single submitter clinical testing PS3, PM2, PM3, PP3
Revvity Omics, Revvity RCV001007641 SCV003824154 likely pathogenic Multiple mitochondrial dysfunctions syndrome 2 2023-02-07 criteria provided, single submitter clinical testing
OMIM RCV001007641 SCV001167327 pathogenic Multiple mitochondrial dysfunctions syndrome 2 2023-04-26 no assertion criteria provided literature only

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