Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Medicine Lab, |
RCV001375992 | SCV001572994 | pathogenic | Joubert syndrome 14 | 2020-06-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001375992 | SCV002242477 | pathogenic | Joubert syndrome 14 | 2021-04-29 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TMEM237-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile291fs*8) in the TMEM237 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM237 are known to be pathogenic (PMID: 22152675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic. |
Genomic Medicine Lab, |
RCV001375992 | SCV002576370 | pathogenic | Joubert syndrome 14 | criteria provided, single submitter | clinical testing |