Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016546 | SCV001177511 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-07 | criteria provided, single submitter | clinical testing | The c.277_278delCT pathogenic mutation, located in coding exon 3 of the TP53 gene, results from a deletion of two nucleotides at nucleotide positions 277 to 278, causing a translational frameshift with a predicted alternate stop codon (p.L93Vfs*55). This mutation was reported in 1/937 Chinese patients at high risk for hereditary breast cancer (Li J et al. Int. J. Cancer 2018 May). In addition to the clinical data presented in the literature, 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. |