ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2324CGCCCG[3] (p.Pro778_Asp779insAlaPro)

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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 RCV003593028 SCV004282045 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-12-15 criteria provided, single submitter clinical testing This variant, c.2330_2335dup, results in the insertion of 2 amino acid(s) of the LTBP3 protein (p.Ala777_Pro778dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. 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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