ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3573+2T>C

gnomAD frequency: 0.00001  dbSNP: rs1219277452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061596 SCV001226344 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-01 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 30 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). This variant is present in population databases (no rsID available, gnomAD 0.01%). Disruption of this splice site has been observed in individuals with retinal dystrophy and/or Senior-Loken syndrome (PMID: 26673778; Invitae). ClinVar contains an entry for this variant (Variation ID: 856191). 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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