Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001385691 | SCV001585640 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1591*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CEP290-related conditions (PMID: 16682973, 24474277). This variant is also known as p.Q1597*. ClinVar contains an entry for this variant (Variation ID: 99856). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003467013 | SCV004216606 | pathogenic | Bardet-Biedl syndrome 14 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000086293 | SCV000118439 | not provided | not provided | no assertion provided | not provided | ||
Sharon lab, |
RCV001002936 | SCV001160971 | pathogenic | Leber congenital amaurosis | 2019-06-23 | no assertion criteria provided | research | |
Prevention |
RCV004542803 | SCV004779431 | pathogenic | CEP290-related disorder | 2024-01-18 | no assertion criteria provided | clinical testing | The CEP290 c.4771C>T variant is predicted to result in premature protein termination (p.Gln1591*). This variant was reported in the homozygous state in an individual with Leber congenital amaurosis (Beryozkin et al. 2014. PubMed ID: 24474277) and in the heterozygous state without a second identified variant in two relatives with Joubert syndrome (Sayer et al. 2006. PubMed ID: 16682973). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CEP290 are expected to be pathogenic. This variant is interpreted as pathogenic. |