ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.545A>G (p.Glu182Gly)

dbSNP: rs2066279652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047156 SCV001211093 uncertain significance Neurofibromatosis, type 2 2022-09-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 182 of the NF2 protein (p.Glu182Gly). This variant has not been reported in the literature in individuals affected with NF2-related conditions. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 844334).
Ambry Genetics RCV002348377 SCV002649125 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-17 criteria provided, single submitter clinical testing The p.E182G variant (also known as c.545A>G), located in coding exon 6 of the NF2 gene, results from an A to G substitution at nucleotide position 545. The glutamic acid at codon 182 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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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