ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1721-7C>G

dbSNP: rs748275183
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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 RCV003756032 SCV004476471 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-06-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is present in population databases (rs748275183, gnomAD 0.0009%). This sequence change falls in intron 11 of the LTBP3 gene. It does not directly change the encoded amino acid sequence of the LTBP3 protein.

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