Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000240229 | SCV000299171 | pathogenic | Neurofibromatosis, type 1 | 2016-01-21 | criteria provided, single submitter | clinical testing | This sequence change inserts 568 nucleotides in exon 2 of the NF1 mRNA (c.129_130ins568), causing a frameshift at codon 44. This creates a premature translational stop signal (p.Ile44Glyfs*27) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. |