ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3761-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002511702 SCV002821632 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing LTBP3: PM2
Labcorp Genetics (formerly Invitae), Labcorp 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.

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