ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.677C>G (p.Pro226Arg)

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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 RCV003592993 SCV004280427 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-02-04 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 226 of the LTBP3 protein (p.Pro226Arg). This variant is present in population databases (rs748142400, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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