Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687898 | SCV000815490 | uncertain significance | Myofibrillar myopathy 4 | 2020-10-01 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LDB3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 24 of the LDB3 protein (p.Asn24Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine. |
Ce |
RCV001091334 | SCV001247300 | uncertain significance | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386173 | SCV002673928 | uncertain significance | Cardiovascular phenotype | 2022-03-04 | criteria provided, single submitter | clinical testing | The p.N24K variant (also known as c.72C>A), located in coding exon 1 of the LDB3 gene, results from a C to A substitution at nucleotide position 72. The asparagine at codon 24 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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. |