Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217426 | SCV000274973 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-04-06 | criteria provided, single submitter | clinical testing | The p.L2115* pathogenic mutation (also known as c.6344T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 6344. This changes the amino acid from a leucine to a stop codon within coding exon 15. Since premature stop codons 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). |