Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000761202 | SCV001245379 | likely pathogenic | Cone-rod dystrophy and hearing loss 2 | 2020-02-14 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Cone-rod dystrophy and hearing loss 2, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3, PVS1-Strong. |
Institute of Medical Genetics and Applied Genomics, |
RCV001268229 | SCV001447005 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001268229 | SCV001588996 | pathogenic | not provided | 2022-07-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg1336*) in the CEP250 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP250 are known to be pathogenic (PMID: 24780881, 29718797). This variant is present in population databases (rs774702094, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 30459346). ClinVar contains an entry for this variant (Variation ID: 620662). |
OMIM | RCV000761202 | SCV000891118 | pathogenic | Cone-rod dystrophy and hearing loss 2 | 2019-03-14 | no assertion criteria provided | literature only |