ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.3G>A (p.Met1Ile)

dbSNP: rs1724946838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003771664 SCV004629321 pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the OPA1 mRNA. The next in-frame methionine is located at codon 125. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with autosomal dominant optic atrophy (PMID: 28125838, 31500643, 32141364, 34758253). ClinVar contains an entry for this variant (Variation ID: 1184499). For these reasons, this variant has been classified as Pathogenic.
Genomics England Pilot Project, Genomics England RCV001542571 SCV001760116 likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy no assertion criteria provided clinical testing

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