Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002420267 | SCV001188503 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-04-08 | criteria provided, single submitter | clinical testing | The c.7224delT pathogenic mutation, located in coding exon 48 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7224, causing a translational frameshift with a predicted alternate stop codon (p.F2408Lfs*3). This alteration has been previously identified in one individual from an Italian neurofibromatosis type 1 (NF1) cohort (Bonatti F et al. Int J Mol Sci, 2017 Sep;18). 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. |
Medical Genetics, |
RCV000497199 | SCV000588834 | pathogenic | Neurofibromatosis, type 1 | 2017-02-02 | no assertion criteria provided | clinical testing |