ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.829_830del (p.Leu277fs)

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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 RCV002659177 SCV002988798 pathogenic Leber congenital amaurosis 13 2022-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu277Glufs*7) in the RDH12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acid(s) of the RDH12 protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. This variant disrupts a region of the RDH12 protein in which other variant(s) (p.Trp304*) have been determined to be pathogenic (PMID: 20736127, 24625443). 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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