Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031451 | SCV001194757 | pathogenic | Neurofibromatosis, type 1 | 2019-01-12 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 30-35 of the NF1 gene. It preserves the integrity of the reading frame. This variant has been observed in an individual tested for neurofibromatosis type 1 (PMID: 26740943). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Sub-genic deletion of exons 34-35 has been determined to be pathogenic (PMID: 16283621, 18055911, Invitae). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |