Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000761200 | SCV001245376 | pathogenic | Cone-rod dystrophy and hearing loss 2 | 2020-02-14 | criteria provided, single submitter | curation | This variant is interpreted as pathogenic for Cone-rod dystrophy and hearing loss 2, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP1, PM3, PS3, PVS1-Strong. |
Invitae | RCV003727818 | SCV004539139 | pathogenic | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg188*) 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 (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with CEP250-related conditions (PMID: 29718797, 30998843). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 620660). 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. |
OMIM | RCV000761200 | SCV000891116 | pathogenic | Cone-rod dystrophy and hearing loss 2 | 2019-03-14 | no assertion criteria provided | literature only |