Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319227 | SCV001176338 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-12-05 | criteria provided, single submitter | clinical testing | The c.2429_2493del65 pathogenic mutation, located in coding exon 21 of the NF1 gene, results from a deletion of 65 nucleotides at nucleotide positions 2429 to 2493, causing a translational frameshift with a predicted alternate stop codon (p.K810Rfs*33). 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. |