ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.970C>G (p.Gln324Glu)

dbSNP: rs74315500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049541 SCV001213597 uncertain significance Neurofibromatosis, type 2 2019-01-14 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 sequence change replaces glutamine with glutamic acid at codon 324 of the NF2 protein (p.Gln324Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
All of Us Research Program, National Institutes of Health RCV001049541 SCV004832197 uncertain significance Neurofibromatosis, type 2 2023-08-23 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 324 of the NF2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with NF2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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