Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019436 | SCV001180794 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-14 | criteria provided, single submitter | clinical testing | The c.951_954delGCCA pathogenic mutation, located in coding exon 8 of the TP53 gene, results from a deletion of 4 nucleotides at nucleotide positions 951 to 954, causing a translational frameshift with a predicted alternate stop codon (p.P318Rfs*26). 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. |