Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180468 | SCV000232917 | pathogenic | not provided | 2014-07-25 | criteria provided, single submitter | clinical testing | |
DBGen Ocular Genomics | RCV001526721 | SCV001737145 | pathogenic | Leber congenital amaurosis 1 | 2021-05-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001852248 | SCV002230016 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-07-19 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs794727952, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 198995). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This sequence change creates a premature translational stop signal (p.Asn591Lysfs*46) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). |