Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214615 | SCV001386303 | pathogenic | Neurofibromatosis, type 1 | 2023-03-13 | 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: 944255). This variant is also known as 752insA. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type I (PMID: 9177273). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln181Thrfs*20) 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 Diagnostics Laboratory, |
RCV001214615 | SCV001479032 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001214615 | SCV002561582 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |