Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV001593166 | SCV001140283 | pathogenic | Leber congenital amaurosis 1 | 2023-04-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001051980 | SCV001216165 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 9 of the GUCY2D gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with autosomal recessive Leber congenital amaurosis (PMID: 10951519; Invitae). ClinVar contains an entry for this variant (Variation ID: 803315). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
DBGen Ocular Genomics | RCV001593166 | SCV001815875 | pathogenic | Leber congenital amaurosis 1 | 2021-06-16 | criteria provided, single submitter | clinical testing |