ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1148C>G (p.Pro383Arg)

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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 RCV003591545 SCV004322301 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-09-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 383 of the LTBP3 protein (p.Pro383Arg). This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions.

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