ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1406C>T (p.Thr469Met)

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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 RCV002928219 SCV003266769 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is present in population databases (rs774468187, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 469 of the LTBP3 protein (p.Thr469Met). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV004067142 SCV005038232 uncertain significance Inborn genetic diseases 2023-12-25 criteria provided, single submitter clinical testing The p.T469M variant (also known as c.1406C>T), located in coding exon 8 of the LTBP3 gene, results from a C to T substitution at nucleotide position 1406. The threonine at codon 469 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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