Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659954 | SCV000781858 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090740 | SCV001246442 | likely pathogenic | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000659954 | SCV002129925 | pathogenic | Neurofibromatosis, type 1 | 2023-06-22 | 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. ClinVar contains an entry for this variant (Variation ID: 547562). Disruption of the initiator codon has been observed in individuals with neurofibromatosis type 1 (PMID: 10712197, 23668869, 23913538). This sequence change affects the initiator methionine of the NF1 mRNA. The next in-frame methionine is located at codon 68. |
Genome- |
RCV000659954 | SCV002561535 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440404 | SCV002748630 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-08-20 | criteria provided, single submitter | clinical testing | The p.M1? pathogenic mutation (also known as c.2T>A) is located in coding exon 1 of the NF1 gene and results from a T to A substitution at nucleotide position 2. This alters the methionine residue at the initiation codon (ATG). Sequence variations that modify the initiation codon are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. |