Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001171148 | SCV001333832 | uncertain significance | Cardiomyopathy | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163376 | SCV003857414 | uncertain significance | Cardiovascular phenotype | 2023-02-17 | criteria provided, single submitter | clinical testing | The p.K380N variant (also known as c.1140G>T), located in coding exon 13 of the MYBPC3 gene, results from a G to T substitution at nucleotide position 1140. The lysine at codon 380 is replaced by asparagine, 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. |