Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004996443 | SCV005526953 | uncertain significance | Cardiovascular phenotype | 2024-11-05 | criteria provided, single submitter | clinical testing | The p.N298D variant (also known as c.892A>G), located in coding exon 2 of the TNXB gene, results from an A to G substitution at nucleotide position 892. The asparagine at codon 298 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |