ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1847+1G>T (rs863224134)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497677 SCV000589520 likely pathogenic not provided 2018-02-26 criteria provided, single submitter clinical testing The c.1847+1G>T variant in the OPA1 gene has previously been reported in at least one individual suspected to have hereditary optic neuropathy (Ferre et al., 2009). This splice site variant destroys the canonical splice donor site in intron 19. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1847+1G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we interpret c.1847+1G>T as a likely pathogenic variant.

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