Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000086036 | SCV000890304 | pathogenic | not provided | 2018-12-24 | criteria provided, single submitter | clinical testing | The R621X variant in the GRM6 gene has been reported previously in the homozygous state in an individual with congenital stationary night blindness (Dryja et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R621X variant is observed in 44/276352 (0.016%) global alleles in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). We interpret R621X as a pathogenic variant. |
Blueprint Genetics | RCV001074243 | SCV001239816 | pathogenic | Retinal dystrophy | 2019-04-29 | criteria provided, single submitter | clinical testing | |
Génétique des Maladies du Développement, |
RCV000006197 | SCV001437088 | pathogenic | Congenital stationary night blindness, type 1B | criteria provided, single submitter | clinical testing | 20A1176 | |
OMIM | RCV000006197 | SCV000026379 | pathogenic | Congenital stationary night blindness, type 1B | 2005-03-29 | no assertion criteria provided | literature only | |
Retina International | RCV000086036 | SCV000118179 | not provided | not provided | no assertion provided | not provided | ||
Medical Genetics Laboratory, |
RCV000787608 | SCV000926592 | pathogenic | Leber congenital amaurosis | 2018-04-01 | no assertion criteria provided | research |