Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512907 | SCV003439940 | pathogenic | TWIST1-related craniosynostosis; Saethre-Chotzen syndrome | 2022-09-24 | 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: 7973). This premature translational stop signal has been observed in individual(s) with Saethre-Chotzen syndrome (PMID: 8988166). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr103*) in the TWIST1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TWIST1 are known to be pathogenic (PMID: 10749989). |
OMIM | RCV000008437 | SCV000028645 | pathogenic | Saethre-Chotzen syndrome | 1997-01-01 | no assertion criteria provided | literature only |