ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.382G>A (p.Asp128Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004728360 SCV005340728 uncertain significance CEP290-related disorder 2024-04-03 no assertion criteria provided clinical testing The CEP290 c.382G>A variant is predicted to result in the amino acid substitution p.Asp128Asn. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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