Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000436026 | SCV000510840 | likely pathogenic | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001851024 | SCV002312171 | likely pathogenic | Familial aplasia of the vermis | 2023-04-11 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 376902). This variant has not been reported in the literature in individuals affected with TMEM216-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant results in the deletion of part of exon 2 (c.35-13_36del) of the TMEM216 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TMEM216 are known to be pathogenic (PMID: 20512146). |
Baylor Genetics | RCV001828393 | SCV004206200 | likely pathogenic | Joubert syndrome 2 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828393 | SCV002091642 | likely pathogenic | Joubert syndrome 2 | 2021-07-08 | no assertion criteria provided | clinical testing |