ClinVar Miner

Submissions for variant NM_001164688.2(RD3):c.38del (p.Pro13fs)

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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 RCV002825181 SCV003204967 pathogenic Leber congenital amaurosis 12 2022-06-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RD3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro13Hisfs*18) in the RD3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RD3 are known to be pathogenic (PMID: 23308101). For these reasons, this variant has been classified as Pathogenic.

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