Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001733267 | SCV001981912 | uncertain significance | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Ginete2020[Thesis]) |
| Labcorp Genetics |
RCV002032724 | SCV002228388 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-22 | criteria provided, single submitter | clinical testing | This variant, c.3162_3167del, results in the deletion of 2 amino acid(s) of the CEP290 protein (p.Ile1055_Ser1056del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760503950, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 1301187). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Fulgent Genetics, |
RCV002496063 | SCV002778969 | uncertain significance | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2021-12-29 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004733370 | SCV005360513 | uncertain significance | CEP290-related disorder | 2024-06-17 | no assertion criteria provided | clinical testing | The CEP290 c.3162_3167del6 variant is predicted to result in an in-frame deletion (p.Ile1055_Ser1056del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |