Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001400268 | SCV001602072 | likely benign | Myofibrillar myopathy 4 | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346183 | SCV002647919 | uncertain significance | Cardiovascular phenotype | 2021-10-06 | criteria provided, single submitter | clinical testing | The p.L181F variant (also known as c.541C>T), located in coding exon 4 of the LDB3 gene, results from a C to T substitution at nucleotide position 541. The leucine at codon 181 is replaced by phenylalanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |