Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038728 | SCV000062406 | uncertain significance | not specified | 2014-05-09 | criteria provided, single submitter | clinical testing | The Ala485Ser variant in LDB3 has been identified by our laboratory in 2 Caucasi an adults with DCM and was absent from large population studies. Computational p rediction tools and conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the Va l30899Gly variant is uncertain. |
Invitae | RCV000794637 | SCV000934058 | uncertain significance | Myofibrillar myopathy 4 | 2022-11-15 | 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 missense change has been observed in individual(s) with clinical features of LDB3-related conditions (Invitae). This variant is present in population databases (rs397517214, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 485 of the LDB3 protein (p.Ala485Ser). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17174G>T in the primary transcript. |
Ambry Genetics | RCV002390161 | SCV002696888 | uncertain significance | Cardiovascular phenotype | 2020-03-11 | criteria provided, single submitter | clinical testing | The p.A485S variant (also known as c.1453G>T), located in coding exon 9 of the LDB3 gene, results from a G to T substitution at nucleotide position 1453. The alanine at codon 485 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |