ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs547719458
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Total submissions: 3
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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 2024-12-18 criteria provided, single submitter clinical testing 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). 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 variant has not been reported in the literature in individuals affected with LTBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2721029). 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.
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.
PreventionGenetics, part of Exact Sciences RCV004753687 SCV005349399 uncertain significance LTBP3-related disorder 2024-06-07 no assertion criteria provided clinical testing The LTBP3 c.3247G>T variant is predicted to result in the amino acid substitution p.Val1083Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0068% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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