Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660092 | SCV000782071 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660092 | SCV000954012 | pathogenic | Neurofibromatosis, type 1 | 2019-01-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). Disruption of this splice site has been observed in several individuals affected with neurofibromatosis type 1 (PMID: 22222937, Invitae). ClinVar contains an entry for this variant (Variation ID: 547673). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 40 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Genome- |
RCV000660092 | SCV002560172 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV002473099 | SCV002771579 | likely pathogenic | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene. |