ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)

dbSNP: rs886044332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000268793 SCV000344498 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV001859707 SCV002232287 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln890*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 290022). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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