Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311238 | SCV000581318 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2016-04-20 | criteria provided, single submitter | clinical testing | The c.7000-1G>T intronic pathogenic mutation results from a G to T substitution one nucleotide upstream from coding exon 47 of the NF1 gene. Another pathogenic mutation at the same nucleotide position (c.7000-1G>A) has been described in a proband with NF1 (Sabbagh A et al. Hum. Mutat. 2013 Nov; 34(11):1510-8). In addition to the clinical data presented in the literature, since alterations that disrupt the canonical splice acceptor site are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Labcorp Genetics |
RCV000797153 | SCV000936696 | pathogenic | Neurofibromatosis, type 1 | 2019-11-16 | 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). This variant has been observed in individuals with neurofibromatosis type 1 (PMID: 23913538, Invitae). ClinVar contains an entry for this variant (Variation ID: 428994). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 46 of the NF1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Institute for Clinical Genetics, |
RCV003237882 | SCV002009288 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000797153 | SCV002560232 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |