ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3243G>A (p.Met1081Ile)

gnomAD frequency: 0.00004  dbSNP: rs200968742
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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 RCV002008773 SCV002276646 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-03-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1081 of the LTBP3 protein (p.Met1081Ile). This variant is present in population databases (rs200968742, gnomAD 0.09%). 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: 1487704). 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 RCV002324450 SCV002609796 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The p.M1081I variant (also known as c.3243G>A), located in coding exon 23 of the LTBP3 gene, results from a G to A substitution at nucleotide position 3243. The methionine at codon 1081 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.

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