ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3031G>T (p.Val1011Leu)

dbSNP: rs2135122386
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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 RCV001960313 SCV002224307 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2021-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1011 of the LTBP3 protein (p.Val1011Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV003303469 SCV004000391 uncertain significance Inborn genetic diseases 2023-06-09 criteria provided, single submitter clinical testing The p.V1011L variant (also known as c.3031G>T), located in coding exon 22 of the LTBP3 gene, results from a G to T substitution at nucleotide position 3031. The valine at codon 1011 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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