Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001879520 | SCV002137771 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 735 of the LTBP3 protein (p.Arg735His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1375133). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. |
| Ambry Genetics | RCV003375397 | SCV004096763 | uncertain significance | Inborn genetic diseases | 2023-06-17 | criteria provided, single submitter | clinical testing | The p.R735H variant (also known as c.2204G>A), located in coding exon 15 of the LTBP3 gene, results from a G to A substitution at nucleotide position 2204. The arginine at codon 735 is replaced by histidine, an amino acid with highly 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. |