Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000578516 | SCV000680684 | likely pathogenic | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | The R84X variant in the RDH12 gene has been reported previously in association with autosomal recessive early onset retinal dystrophy (Mackay et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R84X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R84X as a likely pathogenic variant. |
| Invitae | RCV001058196 | SCV001222747 | pathogenic | Leber congenital amaurosis 13 | 2023-10-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg84*) 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 is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 22065924). ClinVar contains an entry for this variant (Variation ID: 488802). For these reasons, this variant has been classified as Pathogenic. |
| Breda Genetics srl | RCV001058196 | SCV001443679 | pathogenic | Leber congenital amaurosis 13 | 2020-08-24 | criteria provided, single submitter | case-control | The variant c.250C>T (p.Arg84*) in the RDH12 gene is reported as pathogenic/likely pathogenic for Leber congenital amaurosis 13 in ClinVar (Variation ID: 488802). The variant creates a premature stop codon at amino acid position Arg84, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). The variant is reported with an estimated allele frequency of 0.000003976 in gnomAD exomes, with no homozygous individuals reported. The pathogenic variant c.250C>T (p.Arg84*) has been reported by Mackay et al. (2011) in a patient with nonsyndromic autosomal recessive retinal dystrophy (PMID: 22065924). |
| Baylor Genetics | RCV001058196 | SCV004208593 | pathogenic | Leber congenital amaurosis 13 | 2023-07-10 | criteria provided, single submitter | clinical testing | |
| Laboratory of Genetics in Ophthalmology, |
RCV001058196 | SCV001432270 | pathogenic | Leber congenital amaurosis 13 | no assertion criteria provided | research |