Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000002132 | SCV000935367 | pathogenic | Leber congenital amaurosis 13 | 2019-03-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RDH12 are known to be pathogenic (PMID: 17964524, 22065924). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individuals affected with retinal dystrophies (PMID: 15322982, 17389517, 26355662). ClinVar contains an entry for this variant (Variation ID: 2051). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly127*) in the RDH12 gene. It is expected to result in an absent or disrupted protein product. |
Ce |
RCV001091054 | SCV001246891 | pathogenic | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002132 | SCV000022290 | pathogenic | Leber congenital amaurosis 13 | 2004-10-01 | no assertion criteria provided | literature only | |
Department of Clinical Genetics, |
RCV000787672 | SCV000926662 | likely pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Laboratory of Genetics in Ophthalmology, |
RCV000002132 | SCV001432272 | pathogenic | Leber congenital amaurosis 13 | no assertion criteria provided | research | ||
Payam Genetics Center, |
RCV000002132 | SCV003922079 | pathogenic | Leber congenital amaurosis 13 | 2023-03-01 | no assertion criteria provided | clinical testing | This variant has not been reported in the literature in individuals affected with RDH12-related conditions and Iranom. The 14 years old boy whit vision problem has been detected homozygous c.379G>T mutation on his RDH12 genes and the parents are first cousin. The RDH12 gene is associated whit autosomal recessive Leber congenital amaurosis 13/retinitis pigmentosa therefore he is affected to this disease. Therefore, it has been classified as a Variant of Pathogenic. |