Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003306248 | SCV003995619 | uncertain significance | Cardiovascular phenotype | 2023-04-03 | criteria provided, single submitter | clinical testing | The p.S90F variant (also known as c.269C>T), located in coding exon 3 of the LDB3 gene, results from a C to T substitution at nucleotide position 269. The serine at codon 90 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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 | RCV003502720 | SCV004282166 | uncertain significance | Myofibrillar myopathy 4 | 2023-06-17 | 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 disruptive. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 90 of the LDB3 protein (p.Ser90Phe). |