Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000627434 | SCV000748433 | pathogenic | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | Observed with another variant in the CEP290 gene in a patient with ocular motor apraxia and intellectual disability, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Halbritter et al., 2013); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23559409) |
| Invitae | RCV000704380 | SCV000833327 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu277Lysfs*16) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with nephronophthisis-related ciliopathy (PMID: 23559409). ClinVar contains an entry for this variant (Variation ID: 523947). For these reasons, this variant has been classified as Pathogenic. |
| Blueprint Genetics | RCV001074744 | SCV001240339 | pathogenic | Retinal dystrophy | 2019-05-16 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002483763 | SCV002775964 | pathogenic | Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 | 2021-11-06 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003465366 | SCV004216525 | pathogenic | Bardet-Biedl syndrome 14 | 2023-09-21 | criteria provided, single submitter | clinical testing |