Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215738 | SCV001387499 | pathogenic | Neurofibromatosis, type 1 | 2019-05-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with NF1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr433Cysfs*41) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
Foundation for Research in Genetics and Endocrinology, |
RCV001215738 | SCV001446310 | pathogenic | Neurofibromatosis, type 1 | 2020-09-24 | criteria provided, single submitter | clinical testing | A heterozygous 2 base pair insertion in exon 12 of the NF1 gene that results in a frameshift and premature truncation of the protein 41 amino acids downstream to codon 433 was detected. The observed variant c.1292_1293insTG (p.Tyr433CysfsTer41) has not been reported in the 1000 genomes and gnomAD databases. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. |
Genome- |
RCV001215738 | SCV002561652 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |