ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.7394A>C (p.Glu2465Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005311119 SCV005978094 uncertain significance Inborn genetic diseases 2025-01-08 criteria provided, single submitter clinical testing The c.7394A>C (p.E2465A) alteration is located in exon 54 (coding exon 53) of the CEP290 gene. This alteration results from a A to C substitution at nucleotide position 7394, causing the glutamic acid (E) at amino acid position 2465 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733715 SCV005343020 uncertain significance CEP290-related disorder 2024-08-12 no assertion criteria provided clinical testing The CEP290 c.7394A>C variant is predicted to result in the amino acid substitution p.Glu2465Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of South Asian 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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