Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853240 | SCV000996053 | likely pathogenic | Neurofibromatosis, type 1 | 2016-12-09 | criteria provided, single submitter | clinical testing | The c.5118delT (p.Val1707PhefsTer3) variant is a frameshifting variant that is predicted to result in the premature truncation of the NF1 protein. This variant was not previously reported in the literature and/or found in the 1000 Genomes, Exome Variant Server (EVS), and Exome Aggregation Consortium (ExAC) databases. Thus it is presumed to be rare. Based on the predicted functional impact of this frameshifting variant, the p.Val1707PhefsTer3 variant is classified as likely pathogenic. |