ClinVar Miner

Submissions for variant NC_000012.11:g.(?_88470989)_(88473016_?)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 RCV001993323 SCV002232343 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-09-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 39-41 of the CEP290 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant disrupts a region of the CEP290 protein in which other variant(s) (p.Arg1752Trp) have been determined to be pathogenic (PMID: 24265693, 27032803). 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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