Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000002129 | SCV003442311 | pathogenic | Leber congenital amaurosis 13 | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2048). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 15258582). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln189*) 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). |
OMIM | RCV000002129 | SCV000022287 | pathogenic | Leber congenital amaurosis 13 | 2004-08-01 | no assertion criteria provided | literature only |