Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243579 | SCV001416747 | uncertain significance | Neurofibromatosis, type 2 | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg588*) in the NF2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the NF2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 968444). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001565668 | SCV001789057 | uncertain significance | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33087929, 11756419) |
Genome- |
RCV001243579 | SCV002044915 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411898 | SCV002716764 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-09 | criteria provided, single submitter | clinical testing | The p.R588* variant (also known as c.1762C>T), located in coding exon 16 of the NF2 gene, results from a C to T substitution at nucleotide position 1762. This changes the amino acid from an arginine to a stop codon within coding exon 16. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of NF2, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 8 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |