Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV003315216 | SCV004014046 | likely pathogenic | Neurofibromatosis, type 1 | 2023-07-18 | criteria provided, single submitter | clinical testing | This variant was observed in a heterozygous state in our patient who was referred to our clinic with a plexiform neurofibroma and multiple café-au-lait lesions on the skin. The variant is predicted to lead to protein truncation or nonsense-mediated decay in the NF1 gene. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in large, multi-ethnic general populations (GnomAD). Thus this variant classified as likely pathogenic. |