Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001041085 | SCV001204680 | uncertain significance | Myofibrillar myopathy 4 | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 215 of the LDB3 protein (p.Glu215Lys). This variant is present in population databases (rs374168618, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 839351). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV002409392 | SCV002669376 | uncertain significance | Cardiovascular phenotype | 2023-02-23 | criteria provided, single submitter | clinical testing | The p.E262K variant (also known as c.784G>A), located in coding exon 5 of the LDB3 gene, results from a G to A substitution at nucleotide position 784. The glutamic acid at codon 262 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
| Fulgent Genetics, |
RCV002479264 | SCV002776711 | uncertain significance | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-07-05 | criteria provided, single submitter | clinical testing |