Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686768 | SCV000814301 | uncertain significance | Neurofibromatosis, type 2 | 2022-01-07 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 566844). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is present in population databases (rs764034925, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 284 of the NF2 protein (p.Lys284Arg). |
Revvity Omics, |
RCV000686768 | SCV003815871 | uncertain significance | Neurofibromatosis, type 2 | 2022-08-18 | criteria provided, single submitter | clinical testing |