ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)

dbSNP: rs2109058985
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542738 SCV001760118 likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541988 SCV004777773 likely pathogenic OPA1-related disorder 2024-03-01 no assertion criteria provided clinical testing The OPA1 c.1728_1734del7 variant is predicted to result in a frameshift and premature protein termination (p.Glu576Aspfs*7). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in OPA1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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