ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1035+5G>A

dbSNP: rs754576717
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498640 SCV000589519 pathogenic not provided 2024-07-29 criteria provided, single submitter clinical testing Intronic variant directly or indirectly altering the +5 splice site in a gene for which loss of function is a known mechanism of disease, and published functional studies demonstrate a damaging effect (PMID: 11440989, 11810270, 36927155); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 14961560, 11440989, 11810270, 20157015, 25641387, 25794858, 20417570, 24907432, 25044830, 34242285, 11440988, 27656661, 28926202, 33841295, Macuada[article]2024, 38219857, 36927155)
Athena Diagnostics RCV000498640 SCV000614391 likely pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000498640 SCV001246477 pathogenic not provided 2024-06-01 criteria provided, single submitter clinical testing OPA1: PM1, PM2, PM6, PS3:Moderate, PS4:Moderate, PP4
3billion, Medical Genetics RCV000678587 SCV002318547 pathogenic Autosomal dominant optic atrophy classic form 2022-03-22 criteria provided, single submitter clinical testing The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 11440989, 14961560, 20417570, 25137924) and co-segregated with Optic atrophy 1, in multiple affected family members (PMID: 20417570). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000431939). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678587 SCV000804669 likely pathogenic Autosomal dominant optic atrophy classic form 2016-09-01 no assertion criteria provided clinical testing

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