Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619508 | SCV000739936 | pathogenic | Cardiovascular phenotype | 2016-02-19 | criteria provided, single submitter | clinical testing | The c.2451delG pathogenic mutation, located in coding exon 25 of the MYBPC3 gene, results from a deletion of one nucleotide at nucleotide position 2451, causing a translational frameshift with a predicted alternate stop codon (p.W818Gfs*4). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |