ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)

dbSNP: rs794727173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175085 SCV000226513 uncertain significance not provided 2015-05-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000175085 SCV001475334 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing
Invitae RCV000175085 SCV002258325 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 194662). This variant has been observed in individuals with clinical features of dominant optic atrophy (PMID: 19319978, 31673222, 34242285; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.1560_1562del, results in the deletion of 1 amino acid(s) of the OPA1 protein (p.Glu521del), but otherwise preserves the integrity of the reading frame.

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