Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001901646 | SCV002171414 | uncertain significance | Myofibrillar myopathy 4 | 2022-05-25 | criteria provided, single submitter | clinical testing | 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 not present in population databases (gnomAD no frequency). This variant, c.1045_1050dup, results in the insertion of 2 amino acid(s) of the LDB3 protein (p.Ser349_Thr350dup), 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.*7305_*7310dup in the primary transcript. 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 | RCV003303352 | SCV003992283 | uncertain significance | Cardiovascular phenotype | 2023-03-27 | criteria provided, single submitter | clinical testing | The c.1045_1050dupTCCACC variant (also known as p.S349_T350dup), located in coding exon 7 of the LDB3 gene, results from an in-frame duplication of TCCACC at nucleotide positions 1045 to 1050. This results in the duplication of 2 extra residues (ST) between codons 349 and 350. These amino acid positions range from poorly to well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |