ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.778del (p.Glu260fs)

dbSNP: rs527236099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050483 SCV001214592 pathogenic Leber congenital amaurosis 13 2023-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu260Argfs*18) in the RDH12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the RDH12 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant RDH12-related conditions (PMID: 18779497). It has also been observed to segregate with disease in related individuals. This variant is also known as c.776delG. ClinVar contains an entry for this variant (Variation ID: 143163). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073449 SCV001238991 pathogenic Retinal dystrophy 2019-02-26 criteria provided, single submitter clinical testing
OMIM RCV000002141 SCV000022299 pathogenic Retinitis pigmentosa 53 2008-09-01 no assertion criteria provided literature only
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132692 SCV000172645 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.

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