Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415875 | SCV000493290 | likely pathogenic | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000415875 | SCV004459592 | pathogenic | not provided | 2023-04-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr192Asnfs*4) in the LCA5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LCA5 are known to be pathogenic (PMID: 17546029, 23946133). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 374516). This variant has not been reported in the literature in individuals affected with LCA5-related conditions. |
Laboratory of Genetics in Ophthalmology, |
RCV001257107 | SCV001433627 | pathogenic | Leber congenital amaurosis 5 | no assertion criteria provided | research |