Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002327236 | SCV001186528 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-11-27 | criteria provided, single submitter | clinical testing | The c.5766_5767insTG pathogenic mutation, located in coding exon 39 of the NF1 gene, results from an insertion of two nucleotides at position 5766, causing a translational frameshift with a predicted alternate stop codon (p.L1923Cfs*7). 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. |