ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.164dup (p.Leu55fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HSP Biomedical Diagnostics Department,Hospital San Pedro RCV001291943 SCV001480493 likely pathogenic Autosomal dominant optic atrophy classic form 2021-01-19 no assertion criteria provided clinical testing The p.Leu55PhefsTer18 variant is not previously described. This variant generates a stop codon at exon 2 and is likely to alter the biological function of the protein.

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