Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002417865 | SCV002730036 | uncertain significance | Cardiovascular phenotype | 2019-03-22 | criteria provided, single submitter | clinical testing | The c.2137_2139delAAG variant (also known as p.K713del) is located in coding exon 13 of the LDB3 gene. This variant results from an in-frame AAG deletion at nucleotide positions 2137 to 2139. This results in the in-frame deletion of a lysine at codon 713. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003098645 | SCV003285344 | uncertain significance | Myofibrillar myopathy 4 | 2022-08-04 | 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. 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. This variant is present in population databases (rs755424680, gnomAD 0.008%). This variant, c.2137_2139del, results in the deletion of 1 amino acid(s) of the LDB3 protein (p.Lys713del), but otherwise preserves the integrity of the reading frame. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*33555_*33557del in the primary transcript. |