Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853067 | SCV002231737 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-05-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp622Phefs*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). 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 ciliopathy (PMID: 17564974). This variant is also known as c1860_1861delAA (p.Glu620Glufs*7). ClinVar contains an entry for this variant (Variation ID: 56732). For these reasons, this variant has been classified as Pathogenic. |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050145 | SCV000082555 | probable-pathogenic | Meckel syndrome, type 4 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |