Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491491 | SCV000579596 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-06-10 | criteria provided, single submitter | clinical testing | The c.2393_2394dupAC pathogenic mutation, located in coding exon 21 of the TSC2 gene, results from a duplication of AC at nucleotide position 2393, causing a translational frameshift with a predicted alternate stop codon (p.R799Tfs*31). 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). |