Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810939 | SCV000951180 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg108*) 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 Leber congenital amaurosis (PMID: 20683928). ClinVar contains an entry for this variant (Variation ID: 654881). 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. |
Kariminejad - |
RCV001030763 | SCV001194258 | pathogenic | Night blindness | 2018-03-15 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV002290458 | SCV002579882 | pathogenic | Leber congenital amaurosis 10 | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001542774 | SCV004216520 | pathogenic | Bardet-Biedl syndrome 14 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274136 | SCV001457933 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genomics England Pilot Project, |
RCV001542774 | SCV001760313 | likely pathogenic | Bardet-Biedl syndrome 14 | no assertion criteria provided | clinical testing |