ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2983+6T>A

dbSNP: rs1577335678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987383 SCV001136667 likely pathogenic Autosomal dominant optic atrophy classic form 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549678 SCV003202407 uncertain significance not provided 2022-05-17 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the OPA1 gene. It does not directly change the encoded amino acid sequence of the OPA1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 802043). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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