Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319407 | SCV001185583 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-07-10 | criteria provided, single submitter | clinical testing | The c.517delG pathogenic mutation, located in coding exon 5 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 517, causing a translational frameshift with a predicted alternate stop codon (p.D173Mfs*5). 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. |