ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.464C>T (p.Ala155Val)

gnomAD frequency: 0.00001  dbSNP: rs751318725
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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 RCV002011755 SCV002300628 benign not provided 2024-03-20 criteria provided, single submitter clinical testing
GeneDx RCV002011755 SCV003936161 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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