ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)

gnomAD frequency: 0.00001  dbSNP: rs1568413644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760783 SCV000890678 pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31589614)
Invitae RCV001387584 SCV001588253 pathogenic 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln18*) in the OPA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPA3 are known to be pathogenic (PMID: 11668429, 25201222). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 620409). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001272532 SCV001454622 likely pathogenic 3-Methylglutaconic aciduria type 3 2020-09-16 no assertion criteria provided clinical testing

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