Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000497056 | SCV000628714 | pathogenic | Neurofibromatosis, type 1 | 2022-04-05 | 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: 431673). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type-1 (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2134Argfs*14) 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). |
Center for Human Genetics, |
RCV000497056 | SCV000782074 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356815 | SCV001187363 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-06-24 | criteria provided, single submitter | clinical testing | The c.6399dupA pathogenic mutation, located in coding exon 42 of the NF1 gene, results from a duplication of A at nucleotide position 6399, causing a translational frameshift with a predicted alternate stop codon (p.E2134Rfs*14). This alteration was reported in a cohort of Italian neurofibromatosis type 1 (NF1) patients (Bonatti F et al. Int J Mol Sci. 2017 Sep;18:). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Genome- |
RCV000497056 | SCV002560184 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003327407 | SCV004034864 | pathogenic | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23913538, 28961165, 10712197) |
Medical Genetics, |
RCV000497056 | SCV000588818 | pathogenic | Neurofibromatosis, type 1 | 2017-02-02 | no assertion criteria provided | clinical testing |