ClinVar Miner

Submissions for variant NC_000019.9:g.(?_46056772)_(46057189_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004581068 SCV005063612 likely pathogenic 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2022-06-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with OPA3-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the OPA3 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant disrupts the C-terminus of the OPA3 protein. Other variant(s) that disrupt this region (p.Gly65Alafs*7, p.Gln139*) have been observed in individuals with OPA3-related conditions (PMID: 18985435, 27629047). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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