ClinVar Miner

Submissions for variant NM_019098.5(CNGB3):c.1096_1104del (p.Ile366_Ala368del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004798112 SCV005419244 uncertain significance Achromatopsia 3 2024-11-14 criteria provided, single submitter clinical testing The c.1096_1104del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD and our in-house exome database. The variant is present in the Indian Exome Database at a low frequency. This variant has neither been published in literature with CNGB3-related conditions nor reported to the clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. Predictions from different in-silico pathogenicity prediction programs are inconclusive. This variant is located in a non-repeat region of the gene that causes change in protein length by in-frame deletion of 3 amino acids.

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