Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000169679 | SCV000221217 | pathogenic | Familial aplasia of the vermis | 2014-01-20 | criteria provided, single submitter | clinical testing | The Leu626X variant in TCTN2 has not been previously identified in individuals with Joubert syndrome or in large population studies. However, this nonsense variant leads to a premature termination codon at position 626, which is predicted to lead to a truncated or absent protein. Loss-of-function variants in the TCTN2 gene, including another nonsense variant in this exon, have been previously reported in individuals with autosomal recessive ciliopathies including Joubert syndrome (Sang 2011) and Meckel-Gruber syndrome (Shaheen 2011). In summary, this variant meets our criteria to be classified as pathogenic. |