Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001504494 | SCV001709374 | likely benign | Myofibrillar myopathy 4 | 2020-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336857 | SCV002640157 | uncertain significance | Cardiovascular phenotype | 2021-11-04 | criteria provided, single submitter | clinical testing | The p.A151T variant (also known as c.451G>A), located in coding exon 4 of the LDB3 gene, results from a G to A substitution at nucleotide position 451. The alanine at codon 151 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |