Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513274 | SCV003263235 | pathogenic | Orofacial-digital syndrome IV; Joubert syndrome 18 | 2023-05-18 | 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: 37060). This premature translational stop signal has been observed in individual(s) with TCTN3-related conditions (PMID: 22883145). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu450Serfs*14) in the TCTN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCTN3 are known to be pathogenic (PMID: 2692869, 22883145, 25118024). |
OMIM | RCV000030714 | SCV000053375 | pathogenic | Orofacial-digital syndrome IV | 2012-08-10 | no assertion criteria provided | literature only |