ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003056640 SCV003446449 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-02-10 criteria provided, single submitter clinical testing This variant, c.5218_5226del, results in the deletion of 3 amino acid(s) of the CEP290 protein (p.Gln1740_Lys1742del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
PreventionGenetics, part of Exact Sciences RCV004733564 SCV005365376 uncertain significance CEP290-related disorder 2024-05-07 no assertion criteria provided clinical testing The CEP290 c.5218_5226del9 variant is predicted to result in an in-frame deletion (p.Gln1740_Lys1742del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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