ClinVar Miner

Submissions for variant NM_007186.6(CEP250):c.948+6T>G

dbSNP: rs2062984834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001985062 SCV002224456 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP250-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 10 of the CEP250 gene. It does not directly change the encoded amino acid sequence of the CEP250 protein. It affects a nucleotide within the consensus splice site of the intron.

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