Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003755795 | SCV004450577 | pathogenic | Brachyolmia-amelogenesis imperfecta syndrome | 2023-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala777Argfs*91) in the LTBP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LTBP3 are known to be pathogenic (PMID: 11790802, 19344874, 25669657). |