Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002513927 | SCV003441277 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2021-12-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99853). This variant is also known as p.Ile1372LysfsX4. This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 16909394). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile1372Lysfs*5) 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). |
| Gene |
RCV000086290 | SCV004012417 | pathogenic | not provided | 2023-06-06 | criteria provided, single submitter | clinical testing | Observed with a frameshift variant on the opposite allele (in trans) in a patient with postaxial polydactyly, cystic kidney, and bile-duct proliferation in the published literature (Baala et al., 2007); 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16909394, 17564974, 19466712, 17964524) |
| Baylor Genetics | RCV003467012 | SCV004216728 | pathogenic | Bardet-Biedl syndrome 14 | 2022-12-01 | criteria provided, single submitter | clinical testing | |
| Retina International | RCV000086290 | SCV000118436 | not provided | not provided | no assertion provided | not provided |