ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) (rs1569309694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695910 SCV000824449 uncertain significance Neurofibromatosis, type 2 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 516 of the NF2 protein (p.Arg516Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NF2-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV001012056 SCV001172457 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-21 criteria provided, single submitter clinical testing The p.R516Q variant (also known as c.1547G>A), located in coding exon 14 of the NF2 gene, results from a G to A substitution at nucleotide position 1547. The arginine at codon 516 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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