Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303321 | SCV001492562 | uncertain significance | Neurofibromatosis, type 2 | 2020-06-01 | 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. This variant has been reported to affect NF2 protein function (PMID: 24595234, 19451225, 11809806, 15598747, 9931334, 12695331). This variant has been observed in individual(s) with neurofibromatosis type 2 (PMID: 25931164, 26073919). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 64 of the NF2 protein (p.Leu64Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |