Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001870244 | SCV002123349 | uncertain significance | Myofibrillar myopathy 4 | 2021-11-26 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs141116920, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 226 of the LDB3 protein (p.Arg226Cys). |
| Ambry Genetics | RCV002425120 | SCV002680069 | uncertain significance | Cardiovascular phenotype | 2023-06-05 | criteria provided, single submitter | clinical testing | The p.R273C variant (also known as c.817C>T), located in coding exon 5 of the LDB3 gene, results from a C to T substitution at nucleotide position 817. The arginine at codon 273 is replaced by cysteine, an amino acid with highly dissimilar 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. |
| Mayo Clinic Laboratories, |
RCV003481142 | SCV004225281 | uncertain significance | not provided | 2023-01-26 | criteria provided, single submitter | clinical testing | BS2 |