ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)

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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 RCV003602620 SCV004467821 pathogenic Leber congenital amaurosis 13 2023-05-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val73*) in the RDH12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RDH12 are known to be pathogenic (PMID: 17964524, 22065924, 32014858, 34001834). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. For these reasons, this variant has been classified as Pathogenic.

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