ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter)

gnomAD frequency: 0.00001  dbSNP: rs2066512609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371665 SCV001568237 pathogenic not provided 2022-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1061997). This premature translational stop signal has been observed in individual(s) with autosomal dominant optic atrophy (PMID: 34056600). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg378*) in the ACO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACO2 are known to be pathogenic (PMID: 30689204, 32519519).
GeneDx RCV001371665 SCV002031040 pathogenic not provided 2023-07-03 criteria provided, single submitter clinical testing Identified in the heterozygous state in a patient with optic neuropathy in the literature; the variant was also noted to be heterozygous in an asymptomatic parent (Charif et al., 2021); 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27535533, 34056600)
Revvity Omics, Revvity RCV001371665 SCV003822503 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing

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