Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820623 | SCV000961341 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1347*) 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 retinitis pigmentosa (PMID: 25377065). ClinVar contains an entry for this variant (Variation ID: 662882). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003467498 | SCV004216578 | pathogenic | Bardet-Biedl syndrome 14 | 2023-07-30 | criteria provided, single submitter | clinical testing |