ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.160G>A (p.Gly54Ser)

gnomAD frequency: 0.00001  dbSNP: rs368975107
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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 RCV002032027 SCV002313310 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 54 of the LTBP3 protein (p.Gly54Ser). This variant is present in population databases (rs368975107, gnomAD 0.004%). 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: 1524864). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002398128 SCV002706472 uncertain significance Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing The p.G54S variant (also known as c.160G>A), located in coding exon 1 of the LTBP3 gene, results from a G to A substitution at nucleotide position 160. The glycine at codon 54 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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