ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2206A>G (p.Ser736Gly)

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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 RCV003591220 SCV004370098 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 736 of the LTBP3 protein (p.Ser736Gly). This variant is present in population databases (rs751809934, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. 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 RCV004636778 SCV005130001 uncertain significance Inborn genetic diseases 2024-05-25 criteria provided, single submitter clinical testing The p.S736G variant (also known as c.2206A>G), located in coding exon 15 of the LTBP3 gene, results from an A to G substitution at nucleotide position 2206. The serine at codon 736 is replaced by glycine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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