Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000458885 | SCV000564038 | likely pathogenic | Neurofibromatosis, type 2 | 2016-09-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 3 of the NF2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. A similar deletion of exon 3 has been reported in an individual wtih neurofibromatosis type 2 (PMID: 19968670). Experimental studies have not been reported for this in-frame deletion, and it is currently unknown if the amino acids encoded by this exon are critical for protein function. In summary, this variant is a rare deletion of a single in-frame exon with uncertain impact on protein function that has been reported in an affected individual. This evidence strongly supports that the variant is pathogenic, but the available data is currently insufficient to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |