Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV002053869 | SCV002320667 | pathogenic | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-03-30 | criteria provided, single submitter | clinical testing | NF1 NM_000267.3 exon 45 p.Lys2279Asnfs*19 (c.6834del): This variant has been reported in the literature in one individual who met NIH diagnostic criteria for neurofibromatosis type I (Griffiths 2007 PMID:16944272). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop codon 19 amino acids downstream from this location which results in an absent or abnormal protein product. Loss-of-function variants are a known mechanism of disease for this gene (Sabbagh 2013 PMID:23913538). In summary, this variant is classified as pathogenic. |
Fulgent Genetics, |
RCV002053869 | SCV002811061 | pathogenic | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-09-30 | criteria provided, single submitter | clinical testing |