ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.357del (p.Phe119fs)

dbSNP: rs1728905695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052147 SCV002318642 pathogenic Autosomal dominant optic atrophy classic form 2022-03-22 criteria provided, single submitter clinical testing This variant has been reported as pathogenic (PMID:26624494).Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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