Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001089790 | SCV001245284 | pathogenic | Neurofibromatosis, type 1 | 2019-10-29 | criteria provided, single submitter | clinical testing | This sequence change inserts a large fragment of DNA, likely a transposable element, in exon 28 of the NF1 gene (c.3786_3787insSVA), causing a frameshift at codon 1262 (p.Ser1262fs). The exact size and sequence of the insertion cannot be determined by the current assay. However, the insertion is expected to result in an absent or disrupted protein product. Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to be disease-causing through disruption of either a coding region or splice site (PMID: 19763152, 20307669, 22406018) and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic. |