ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.157_187+178del

dbSNP: rs1594865068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820774 SCV000961501 pathogenic Leber congenital amaurosis 13 2023-10-02 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 4 (c.157_187+178del) of the RDH12 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RDH12 are known to be pathogenic (PMID: 17964524, 22065924, 32014858, 34001834). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. ClinVar contains an entry for this variant (Variation ID: 662998). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the RDH12 protein in which other variant(s) (p.Thr55Met) have been determined to be pathogenic (PMID: 16269441, 23847139, 28471114, 31814694; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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