Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693065 | SCV000820919 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2021-12-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 571826). This variant has not been reported in the literature in individuals affected with TCTN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu123Profs*8) in the TCTN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCTN2 are known to be pathogenic (PMID: 21565611). For these reasons, this variant has been classified as Pathogenic. |