ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3104-2A>G

dbSNP: rs773386777
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415418 SCV000493058 pathogenic Familial aplasia of the vermis; Polycystic kidney disease; Abnormality of the kidney; Cerebellar vermis hypoplasia; Cerebellar cyst; Hyperechogenic kidneys 2014-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470370 SCV004216506 likely pathogenic Bardet-Biedl syndrome 14 2023-10-04 criteria provided, single submitter clinical testing
Invitae RCV003766166 SCV004570859 likely pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 374210). Disruption of this splice site has been observed in individual(s) with CEP290-related conditions (PMID: 17617513). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 27 of the CEP290 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).

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