Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002432900 | SCV002729369 | uncertain significance | Cardiovascular phenotype | 2019-08-12 | criteria provided, single submitter | clinical testing | The p.L727S variant (also known as c.2180T>C), located in coding exon 13 of the LDB3 gene, results from a T to C substitution at nucleotide position 2180. The leucine at codon 727 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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. |
| Invitae | RCV003611616 | SCV004463568 | uncertain significance | Myofibrillar myopathy 4 | 2023-05-05 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. 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. This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 727 of the LDB3 protein (p.Leu727Ser). |