ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348048 SCV001542335 uncertain significance Neurofibromatosis, type 2 2020-08-04 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 413 of the NF2 protein (p.Lys413Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs766974263, ExAC 0.02%). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 2 (PMID: 7759081). This variant has been reported to have conflicting or insufficient data to determine the effect on NF2 protein function (PMID: 11535133, 24309211, 24595234, 9931334, 9466988). 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.

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