ClinVar Miner

Submissions for variant NC_000012.11:g.(?_88209612)_(88484553_?)del

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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 RCV004578402 SCV005067110 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant results in the deletion of part of exon 30 and exons 31-54 (c.3525_*171del) of the CEP290 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant disrupts a region of the CEP290 protein in which other variant(s) (p.Leu2448Thrfs*8) have been determined to be pathogenic (PMID: 16682973, 16909394, 29588463). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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