Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004996528 | SCV005526766 | uncertain significance | Cardiovascular phenotype | 2024-10-07 | criteria provided, single submitter | clinical testing | The p.D1484V variant (also known as c.4451A>T), located in coding exon 11 of the TNXB gene, results from an A to T substitution at nucleotide position 4451. The aspartic acid at codon 1484 is replaced by valine, an amino acid with highly dissimilar 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. |