ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.723del (p.Ser242fs)

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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 RCV002635366 SCV002961422 pathogenic Leber congenital amaurosis 13 2022-06-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with RDH12-related conditions (PMID: 31630094). For these reasons, this variant has been classified as Pathogenic. 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; 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. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser242Profs*36) in the RDH12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the RDH12 protein.

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