Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412190 | SCV000487520 | likely pathogenic | Meckel syndrome, type 2 | 2016-02-22 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410198 | SCV000487521 | likely pathogenic | Joubert syndrome 2 | 2016-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002523886 | SCV003209717 | pathogenic | Familial aplasia of the vermis | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly77Trpfs*16) in the TMEM216 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM216 are known to be pathogenic (PMID: 20512146). This variant is present in population databases (rs767384710, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TMEM216-related conditions. ClinVar contains an entry for this variant (Variation ID: 371710). For these reasons, this variant has been classified as Pathogenic. |