Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171993 | SCV000050973 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV001852092 | SCV002197141 | uncertain significance | Myofibrillar myopathy 4 | 2023-04-01 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 191698). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs199739130, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 208 of the LDB3 protein (p.Lys208Arg). |
Ambry Genetics | RCV002390412 | SCV002672835 | uncertain significance | Cardiovascular phenotype | 2020-01-16 | criteria provided, single submitter | clinical testing | The p.K255R variant (also known as c.764A>G), located in coding exon 5 of the LDB3 gene, results from an A to G substitution at nucleotide position 764. The lysine at codon 255 is replaced by arginine, an amino acid with highly similar properties. This variant was identified in one individual with dilated cardiomyopathy (Mook OR et al. J. Med. Genet., 2013 Sep;50:614-26). 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. |