Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000497250 | SCV000782018 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000497250 | SCV001582834 | pathogenic | Neurofibromatosis, type 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431638). This variant is also known as c.4339C>T (p.Gln1447*). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 28961165, 30308447). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1426*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |
Genome- |
RCV000497250 | SCV002560042 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000497250 | SCV000588780 | pathogenic | Neurofibromatosis, type 1 | 2017-02-02 | no assertion criteria provided | clinical testing |