Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220070 | SCV001392043 | uncertain significance | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with arginine at codon 363 of the NEXN protein (p.Thr363Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs748351352, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with NEXN-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 | RCV002418755 | SCV002725434 | uncertain significance | Cardiovascular phenotype | 2023-05-11 | criteria provided, single submitter | clinical testing | The p.T363R variant (also known as c.1088C>G), located in coding exon 9 of the NEXN gene, results from a C to G substitution at nucleotide position 1088. The threonine at codon 363 is replaced by arginine, an amino acid with similar properties. This amino acid position is not 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. |
Kardio |
RCV003327496 | SCV004034980 | uncertain significance | Dilated cardiomyopathy 1CC | 2023-08-14 | criteria provided, single submitter | clinical testing |