Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354933 | SCV001187150 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-07-24 | criteria provided, single submitter | clinical testing | The c.6240delC pathogenic mutation, located in coding exon 41 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 6240, causing a translational frameshift with a predicted alternate stop codon (p.Y2081Tfs*9). 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. |
Gene |
RCV001548732 | SCV001768699 | pathogenic | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge |