Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002419042 | SCV002681640 | uncertain significance | Cardiovascular phenotype | 2020-03-20 | criteria provided, single submitter | clinical testing | The p.R266H variant (also known as c.797G>A), located in coding exon 5 of the LDB3 gene, results from a G to A substitution at nucleotide position 797. The arginine at codon 266 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other 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. |
| Invitae | RCV003502658 | SCV004299306 | uncertain significance | Myofibrillar myopathy 4 | 2023-01-14 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1761459). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs748193817, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 219 of the LDB3 protein (p.Arg219His). |