ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.1389-7C>A

gnomAD frequency: 0.00002  dbSNP: rs776659605
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001939858 SCV002185862 uncertain significance not provided 2021-02-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with CEP250-related conditions. This variant is present in population databases (rs776659605, ExAC 0.002%). This sequence change falls in intron 13 of the CEP250 gene. It does not directly change the encoded amino acid sequence of the CEP250 protein.

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