ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)

gnomAD frequency: 0.00001  dbSNP: rs143929819
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176886 SCV000228644 likely pathogenic not provided 2013-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000176886 SCV002132666 uncertain significance not provided 2022-10-22 criteria provided, single submitter clinical testing 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. This sequence change disrupts the translational stop signal of the OPA1 mRNA. It is expected to extend the length of the OPA1 protein by 13 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individuals with autosomal dominant optic atrophy (PMID: 16617242, 33841295). This variant is also known as Stop961Tyr, p.*1016Tyr. ClinVar contains an entry for this variant (Variation ID: 167406). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987378 SCV004804198 uncertain significance not specified 2024-01-05 criteria provided, single submitter clinical testing Variant summary: OPA1 c.2883A>C (p.X961TyrextX13) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. The variant allele was found at a frequency of 6.6e-06 in 150998 control chromosomes (gnomAD v3.1). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.2883A>C, has been reported in the literature in at least 3 individuals affected with optic atrophy (Han_2006, Charif_2021), however no cosegregation evidence was provided. These reports therefore do not provide unequivocal conclusions about association of the variant with OPA1-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 167406). Based on the evidence outlined above, the variant was classified as uncertain significance.

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