ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1377_1377+4del

dbSNP: rs1577242473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992457 SCV001144789 pathogenic not provided 2018-11-28 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Labcorp Genetics (formerly Invitae), Labcorp RCV000992457 SCV004292252 pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 12 (c.1212_1212+4del) of the OPA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220). This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with dominant optic atrophy (PMID: 15948788, 34242285). This variant is also known as 1212delTgtaa. ClinVar contains an entry for this variant (Variation ID: 805096). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000992457 SCV005081088 likely pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11440988, 27860320, 32581362, 34242285, 15948788)

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