ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3247G>T (p.Val1083Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003592902 SCV004276782 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-03-09 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 tolerated. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1083 of the LTBP3 protein (p.Val1083Leu).
Ambry Genetics RCV004369139 SCV005038394 uncertain significance Inborn genetic diseases 2024-03-13 criteria provided, single submitter clinical testing The p.V1083L variant (also known as c.3247G>T), located in coding exon 24 of the LTBP3 gene, results from a G to T substitution at nucleotide position 3247. The valine at codon 1083 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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