ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.430G>T (p.Ala144Ser)

dbSNP: rs181842110
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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 RCV002031441 SCV002312370 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 144 of the LTBP3 protein (p.Ala144Ser). This variant is present in population databases (rs181842110, gnomAD 0.04%). 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: 1524064). 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.
Ambry Genetics RCV002331650 SCV002627582 uncertain significance Inborn genetic diseases 2022-03-30 criteria provided, single submitter clinical testing The p.A144S variant (also known as c.430G>T), located in coding exon 2 of the LTBP3 gene, results from a G to T substitution at nucleotide position 430. The alanine at codon 144 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.

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