Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037892 | SCV001201327 | pathogenic | Neurofibromatosis, type 1 | 2019-12-26 | 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 43 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001037892 | SCV004047891 | pathogenic | Neurofibromatosis, type 1 | criteria provided, single submitter | clinical testing | The c.6705-1G>T splice acceptor variant in NF1 gene has been reported in individual(s) with neurofibromatosis type 1 (Fahsold et al., 2000). The c.6705-1G>T variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (Fahsold et al., 2000; Sabbagh et al., 2013). For these reasons, this variant has been classified as Pathogenic |