Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000492222 | SCV000581177 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-04-12 | criteria provided, single submitter | clinical testing | The c.762dupG pathogenic mutation, located in coding exon 5 of the CHEK2 gene, results from a duplication of G at nucleotide position 762, causing a translational frameshift with a predicted alternate stop codon. 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). |