ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.502G>T (p.Ala168Ser)

dbSNP: rs1856724698
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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 RCV001936725 SCV002221762 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2021-08-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 168 of the LTBP3 protein (p.Ala168Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV002334944 SCV002641810 uncertain significance Inborn genetic diseases 2022-04-03 criteria provided, single submitter clinical testing The p.A168S variant (also known as c.502G>T), located in coding exon 2 of the LTBP3 gene, results from a G to T substitution at nucleotide position 502. The alanine at codon 168 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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