ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044834 SCV001208654 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1299*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs761907569, ExAC 0.002%). This variant has been observed in an individual affected with clinical features of Joubert syndrome (PMID: 27848944). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196763 SCV001367396 likely pathogenic Joubert syndrome 5 2020-01-20 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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