ClinVar Miner

Submissions for variant NM_152443.3(RDH12):c.784dup (p.Ala262fs)

dbSNP: rs1594867551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803399 SCV000943268 pathogenic Leber congenital amaurosis 13 2023-06-28 criteria provided, single submitter clinical testing 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.Arg295*) have been determined to be pathogenic (PMID: 16269441, 22065924, 26047050). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 648633). This premature translational stop signal has been observed in individual(s) with autosomal recessive Leber congenital amaurosis (PMID: 25561519). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala262Glyfs*11) in the RDH12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the RDH12 protein.
Baylor Genetics RCV000803399 SCV004208578 pathogenic Leber congenital amaurosis 13 2023-09-15 criteria provided, single submitter clinical testing

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