Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219409 | SCV000272209 | uncertain significance | not specified | 2015-05-16 | criteria provided, single submitter | clinical testing | The p.Arg412Gly variant in NEXN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/15358 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comp utational prediction tools and conservation analysis suggest that the variant ma y impact the protein, though this information is not predictive enough to determ ine pathogenicity. In summary, the clinical significance of the p.Arg412Gly vari ant is uncertain. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798706 | SCV002043701 | uncertain significance | Cardiomyopathy | 2022-09-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165543 | SCV003854149 | uncertain significance | Cardiovascular phenotype | 2022-12-07 | criteria provided, single submitter | clinical testing | The p.R412G variant (also known as c.1234A>G), located in coding exon 9 of the NEXN gene, results from an A to G substitution at nucleotide position 1234. The arginine at codon 412 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |