Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002250039 | SCV002516530 | pathogenic | Leber congenital amaurosis 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003774717 | SCV004610214 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-12-03 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the GUCY2D mRNA. The next in-frame methionine is located at codon 218. This variant is present in population databases (no rsID available, gnomAD 0.01%). Disruption of the initiator codon has been observed in individuals with Leber congenital amaurosis (PMID: 10951519, 15024725). ClinVar contains an entry for this variant (Variation ID: 1685872). This variant disrupts a region of the GUCY2D protein in which other variant(s) (p.Glu103Lys) have been determined to be pathogenic (PMID: 21602930, 28041643, 29178642, 34048777; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |