Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037886 | SCV001201321 | uncertain significance | Myofibrillar myopathy 4 | 2023-06-13 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 836699). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs751981682, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 268 of the LDB3 protein (p.Arg268His). |
Ambry Genetics | RCV002409374 | SCV002675553 | uncertain significance | Cardiovascular phenotype | 2018-03-06 | criteria provided, single submitter | clinical testing | The p.R268H variant (also known as c.803G>A), located in coding exon 8 of the LDB3 gene, results from a G to A substitution at nucleotide position 803. The arginine at codon 268 is replaced by histidine, an amino acid with highly similar properties. An alternate amino acid substitution p.R268C has been reported in an individual with later age of onset myofibrillar myopathy without cardiac involvement (Selcen D et al. Ann. Neurol., 2005 Feb;57:269-76). This amino acid position is 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. |
Revvity Omics, |
RCV003132150 | SCV003816491 | uncertain significance | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing |