Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000491270 | SCV000579601 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-07-01 | criteria provided, single submitter | clinical testing | The p.E251* pathogenic mutation (also known as c.751G>T), located in coding exon 7 of the TSC2 gene, results from a G to T substitution at nucleotide position 751. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. 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). |