Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003783692 | SCV004571050 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp62*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive GUCY2D-related conditions (PMID: 17525851). For these reasons, this variant has been classified as Pathogenic. |