Total submissions: 2
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 |