Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019446 | SCV001180805 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-19 | criteria provided, single submitter | clinical testing | The c.325_328delTTCC pathogenic mutation, located in coding exon 3 of the TP53 gene, results from a deletion of 4 nucleotides at nucleotide positions 325 to 328, causing a translational frameshift with a predicted alternate stop codon (p.F109Vfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |