ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3546G>A (p.Ala1182=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005082990 SCV005715009 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-10-30 criteria provided, single submitter clinical testing This sequence change affects codon 1182 of the LTBP3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LTBP3 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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