ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.598A>G (p.Arg200Gly)

gnomAD frequency: 0.00001  dbSNP: rs1487106309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001352421 SCV001546973 uncertain significance Neurofibromatosis, type 2 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 200 of the NF2 protein (p.Arg200Gly). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047674). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002357208 SCV002657113 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-11 criteria provided, single submitter clinical testing The p.R200G variant (also known as c.598A>G), located in coding exon 6 of the NF2 gene, results from an A to G substitution at nucleotide position 598. The arginine at codon 200 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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