Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002511702 | SCV002821632 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | LTBP3: PM2 |
Labcorp Genetics |
RCV003754996 | SCV004458263 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 27 of the LTBP3 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1879203). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |