ClinVar Miner

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

dbSNP: rs766974263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348048 SCV001542335 uncertain significance Neurofibromatosis, type 2 2022-11-25 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 are conflicting or provide insufficient evidence to determine the effect of this variant on NF2 function (PMID: 9466988, 9931334, 11535133, 24309211, 24595234). 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: 1043876). This missense change has been observed in individual(s) with clinical features of neurofibromatosis type 2 (PMID: 7759081). This variant is present in population databases (rs766974263, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 413 of the NF2 protein (p.Lys413Glu).
Baylor Genetics RCV003462913 SCV004199040 uncertain significance Familial meningioma 2023-09-19 criteria provided, single submitter clinical testing

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