Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660064 | SCV000782032 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660064 | SCV001396754 | pathogenic | Neurofibromatosis, type 1 | 2019-06-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type 1 (PMID: 25325900). This variant is also known as c.4743_4744delAG (p.Glu1582Argfs*39) in the literature. ClinVar contains an entry for this variant (Variation ID: 547649). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1561Argfs*39) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV000660064 | SCV002560085 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |