Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151559 | SCV000199699 | uncertain significance | not specified | 2014-01-28 | criteria provided, single submitter | clinical testing | The 447+5C>T variant in NEXN has not been reported in individuals with cardiomyo pathy or in large population studies. This variant is located in the 5' splice r egion. Computational tools do not suggest an impact to splicing. However, this i nformation is not predictive enough to rule out pathogenicity. Additional inform ation is needed to fully assess the clinical significance of the 447+5C>T varian t. |
Ambry Genetics | RCV002326867 | SCV002636671 | uncertain significance | Cardiovascular phenotype | 2019-03-01 | criteria provided, single submitter | clinical testing | The c.447+5C>T intronic variant results from a C to T substitution 5 nucleotides after coding exon 4 in the NEXN gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |