ClinVar Miner

Submissions for variant NC_000012.11:g.(?_88447419)_(88448200_?)dup

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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 RCV002050293 SCV002313390 likely pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-02-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 51-52 of the CEP290 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant has not been reported in the literature in individuals with CEP290-related conditions. 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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