Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204233 | SCV001375432 | uncertain significance | Neurofibromatosis, type 2 | 2021-03-13 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid is currently unknown. This variant has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1264_1266del, results in the deletion of 1 amino acid of the NF2 protein (p.Glu422del), but otherwise preserves the integrity of the reading frame. |
Ambry Genetics | RCV002447055 | SCV002679140 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-05 | criteria provided, single submitter | clinical testing | The c.1264_1266delGAG variant (also known as p.E422del) is located in coding exon 12 of the NF2 gene. This variant results from an in-frame GAG deletion at nucleotide positions 1264 to 1266. This results in the in-frame deletion of a glutamic acid at codon 422. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688).Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Preventiongenetics, |
RCV003405387 | SCV004107865 | uncertain significance | NF2-related condition | 2023-09-12 | criteria provided, single submitter | clinical testing | The NF2 c.1264_1266delGAG variant is predicted to result in an in-frame deletion (p.Glu422del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |