ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)

dbSNP: rs1488795500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253178 SCV001428763 pathogenic Autosomal dominant optic atrophy classic form 2019-11-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Invitae RCV002570526 SCV002959564 pathogenic not provided 2023-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu246*) in the OPA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA1 are known to be pathogenic (PMID: 11440988, 20157015, 20952381, 25012220). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of optic atrophy (PMID: 31500643). This variant is also known as c.902T>G (p.Leu301*). ClinVar contains an entry for this variant (Variation ID: 976012). For these reasons, this variant has been classified as Pathogenic.

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