ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.1A>G (p.Met1Val)

dbSNP: rs1230629432
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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 RCV001378889 SCV001576580 likely pathogenic 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2020-01-26 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with OPA3-related disease (PMID: 24749080, 25205859). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the OPA3 mRNA. The next in-frame methionine is located at codon 8. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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