Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053674 | SCV001217947 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-10-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu97*) 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 Meckel syndrome (PMID: 19466712). ClinVar contains an entry for this variant (Variation ID: 56734). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001091341 | SCV001247309 | pathogenic | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000050147 | SCV001440935 | pathogenic | Meckel syndrome, type 4 | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
Gene |
RCV001091341 | SCV001770052 | likely pathogenic | not provided | 2019-05-21 | criteria provided, single submitter | clinical testing | Nonsense 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; This variant is associated with the following publications: (PMID: 31734136, 19466712, 25525159) |
Baylor Genetics | RCV003466923 | SCV004216652 | pathogenic | Bardet-Biedl syndrome 14 | 2023-04-28 | criteria provided, single submitter | clinical testing | |
Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000050147 | SCV000082557 | probable-pathogenic | Meckel syndrome, type 4 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Natera, |
RCV001274137 | SCV001457934 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |