Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002366548 | SCV002659418 | uncertain significance | Cardiovascular phenotype | 2022-04-15 | criteria provided, single submitter | clinical testing | The c.1219_1222delGTCT variant, located in coding exon 8 of the LDB3 gene, results from a deletion of 4 nucleotides at nucleotide positions 1219 to 1222, causing a translational frameshift with a predicted alternate stop codon (p.V407Tfs*84). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of LDB3 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003103278 | SCV003266653 | uncertain significance | Myofibrillar myopathy 4 | 2022-06-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This sequence change creates a premature translational stop signal (p.Val407Thrfs*84) in the LDB3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease. The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*10664_*10667del in the primary transcript. |