Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000206046 | SCV000261088 | pathogenic | Neurofibromatosis, type 1 | 2023-04-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of a cryptic splice site in exon 37 (PMID: 12807981, 21354044). ClinVar contains an entry for this variant (Variation ID: 220498). This variant is also known as IVS28+5G>A. This variant has been observed in individuals with neurofibromatosis type 1 (NF1) (PMID: 12807981, 16835897, 21354044, 23913538). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 36 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the loss of 18 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. |
| Medical Genetics, |
RCV000206046 | SCV002567808 | pathogenic | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing |