Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851547 | SCV002244464 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1386). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 19508969). This variant is present in population databases (rs267607118, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln44*) in the TMEM67 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409). |
OMIM | RCV000001456 | SCV000021606 | pathogenic | Joubert syndrome 6 | 2009-10-01 | no assertion criteria provided | literature only |