ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1610G>A (p.Arg537Gln)

gnomAD frequency: 0.00004  dbSNP: rs779937464
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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 RCV001895866 SCV002147635 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 537 of the LTBP3 protein (p.Arg537Gln). This variant is present in population databases (rs779937464, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1384268). 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 tolerated. 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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