Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002633614 | SCV003515345 | uncertain significance | Myofibrillar myopathy 4 | 2023-04-24 | 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. ClinVar contains an entry for this variant (Variation ID: 2196365). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs763212970, gnomAD 0.003%). This variant, c.18_23dup, results in the insertion of 2 amino acid(s) of the LDB3 protein (p.Leu7_Thr8dup), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV003162039 | SCV003909128 | uncertain significance | Cardiovascular phenotype | 2023-02-10 | criteria provided, single submitter | clinical testing | The c.18_23dupCCTGAC variant (also known as p.L7_T8dup), located in coding exon 1 of the LDB3 gene, results from an in-frame duplication of CCTGAC at nucleotide positions 18 to 23. This results in the duplication of 2 extra residues (LT) between codons 7 and 8. These amino acid positions are not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (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. |