Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001231640 | SCV001404168 | pathogenic | Neurofibromatosis, type 1 | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in inclusion of a cryptic exon and introduces a premature termination codon (PMID: 12807981, 18546366, 19241459). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 958469). This variant has been observed in individuals with neurofibromatosis type 1 (PMID: 12807981, 18546366; Invitae). This sequence change falls in intron 53 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 may result in an absent or disrupted protein product. |
| Fulgent Genetics, |
RCV002480758 | SCV002777782 | likely pathogenic | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-04-23 | criteria provided, single submitter | clinical testing |