ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1516del (p.Arg506fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466743 SCV004216718 likely pathogenic Bardet-Biedl syndrome 14 2023-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723330 SCV005340050 likely pathogenic CEP290-related disorder 2024-06-22 no assertion criteria provided clinical testing The CEP290 c.1516delC variant is predicted to result in a frameshift and premature protein termination (p.Arg506Valfs*9). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in CEP290 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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