Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619974 | SCV000740171 | pathogenic | Cardiovascular phenotype | 2017-06-07 | criteria provided, single submitter | clinical testing | The p.E643* pathogenic mutation (also known as c.1927G>T), located in coding exon 20 of the MYBPC3 gene, results from a G to T substitution at nucleotide position 1927. This changes the amino acid from a glutamic acid to a stop codon within coding exon 20. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |