Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003768615 | SCV004571426 | pathogenic | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-11-20 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis and congenital night blindnes (PMID: 17964524, 29559409). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 689384). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln545*) 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). |
OMIM | RCV000850097 | SCV000992261 | pathogenic | Leber congenital amaurosis 1 | 2019-09-03 | no assertion criteria provided | literature only | |
OMIM | RCV000850098 | SCV000992262 | pathogenic | Night blindness, congenital stationary, type1i | 2019-09-03 | no assertion criteria provided | literature only |