Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002454824 | SCV002616278 | uncertain significance | Inborn genetic diseases | 2024-06-23 | criteria provided, single submitter | clinical testing | The p.A1182V variant (also known as c.3545C>T), located in coding exon 25 of the LTBP3 gene, results from a C to T substitution at nucleotide position 3545. The alanine at codon 1182 is replaced by valine, an amino acid with 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. |
Labcorp Genetics |
RCV003099560 | SCV003490658 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2022-11-04 | criteria provided, single submitter | clinical testing | 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1182 of the LTBP3 protein (p.Ala1182Val). |