Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499490 | SCV000595981 | uncertain significance | not specified | 2017-06-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000703302 | SCV000832198 | uncertain significance | Neurofibromatosis, type 2 | 2023-07-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with NF2-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF2 protein function. ClinVar contains an entry for this variant (Variation ID: 435976). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 545 of the NF2 protein (p.Glu545Asp). |
Genome- |
RCV000703302 | SCV002044905 | uncertain significance | Neurofibromatosis, type 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404314 | SCV002707925 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-07-26 | criteria provided, single submitter | clinical testing | The p.E545D variant (also known as c.1635A>T), located in coding exon 15 of the NF2 gene, results from an A to T substitution at nucleotide position 1635. The glutamic acid at codon 545 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |