ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1157dup (p.Ser387fs)

dbSNP: rs1733978179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090766 SCV001246478 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001090766 SCV003252826 pathogenic not provided 2022-04-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser332Glufs*2) 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 dominant optical atrophy (PMID: 34242285). ClinVar contains an entry for this variant (Variation ID: 871021). For these reasons, this variant has been classified as Pathogenic.

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