Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002157644 | SCV002418334 | uncertain significance | Myofibrillar myopathy 4 | 2023-05-23 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 182 of the LDB3 protein (p.Gly182Asp). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.321+1502G>A in the primary transcript. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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: 1604256). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. |
Ambry Genetics | RCV003161526 | SCV003860819 | uncertain significance | Cardiovascular phenotype | 2022-12-25 | criteria provided, single submitter | clinical testing | The p.G182D variant (also known as c.545G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 545. The glycine at codon 182 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. 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. |