ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2077C>A (p.Leu693Ile)

gnomAD frequency: 0.00001  dbSNP: rs763373574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003165317 SCV003858606 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The p.L693I variant (also known as c.2077C>A), located in coding exon 14 of the LTBP3 gene, results from a C to A substitution at nucleotide position 2077. The leucine at codon 693 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778950 SCV004653055 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-04-09 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. 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. This variant is present in population databases (rs763373574, gnomAD 0.006%). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 693 of the LTBP3 protein (p.Leu693Ile).

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