Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001879811 | SCV002187634 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 18 of the GUCY2D gene. It does not directly change the encoded amino acid sequence of the GUCY2D protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 974673). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Laboratory of Genetics in Ophthalmology, |
RCV001250882 | SCV001426374 | likely pathogenic | Leber congenital amaurosis 1 | no assertion criteria provided | research |