ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1523-1G>T (rs1192112844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636997 SCV000758445 likely pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-08-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 15 of the CEP290 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CEP290-related disease. Donor and acceptor splice site variants 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). 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.

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