ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1480C>T (p.Pro494Ser)

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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 RCV002397134 SCV002702540 uncertain significance Inborn genetic diseases 2021-11-24 criteria provided, single submitter clinical testing The p.P494S variant (also known as c.1480C>T), located in coding exon 8 of the LTBP3 gene, results from a C to T substitution at nucleotide position 1480. The proline at codon 494 is replaced by serine, an amino acid with 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 RCV003774350 SCV004635259 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-05-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1773560). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is present in population databases (rs775419010, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 494 of the LTBP3 protein (p.Pro494Ser). 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. 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.

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