ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)

gnomAD frequency: 0.00001  dbSNP: rs903257336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046023 SCV001209904 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-03-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 843406). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Gln869*) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814260 SCV001755532 pathogenic Abnormality of prenatal development or birth 2021-07-10 criteria provided, single submitter clinical testing

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