Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242293 | SCV001415371 | uncertain significance | Myofibrillar myopathy 4 | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 19 of the LDB3 protein (p.Gly19Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 967392). 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 disruptive. 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 | RCV002348825 | SCV002651409 | uncertain significance | Cardiovascular phenotype | 2020-12-11 | criteria provided, single submitter | clinical testing | The p.G19R variant (also known as c.55G>C), located in coding exon 1 of the LDB3 gene, results from a G to C substitution at nucleotide position 55. The glycine at codon 19 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002504343 | SCV002817090 | uncertain significance | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-10-14 | criteria provided, single submitter | clinical testing |