ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6146T>C (p.Ile2049Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006512 SCV005630418 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728662 SCV005337979 uncertain significance CEP290-related disorder 2024-04-02 no assertion criteria provided clinical testing The CEP290 c.6146T>C variant is predicted to result in the amino acid substitution p.Ile2049Thr. 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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