ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.869dup (p.Ser291fs)

dbSNP: rs2038316193
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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 RCV001205458 SCV001376718 pathogenic Leber congenital amaurosis 13 2019-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the RDH12 protein. Other variant(s) that disrupt this region (p.Arg295*) have been determined to be pathogenic (PMID: 16269441, 26047050, 22065924). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with RDH12-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the RDH12 gene (p.Ser291Valfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acids of the RDH12 protein.

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