ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1397G>T (p.Arg466Leu)

dbSNP: rs866689896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362191 SCV001558195 uncertain significance Neurofibromatosis, type 2 2022-08-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 466 of the NF2 protein (p.Arg466Leu). ClinVar contains an entry for this variant (Variation ID: 1053799). 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").
Ambry Genetics RCV002395804 SCV002701706 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-05 criteria provided, single submitter clinical testing The p.R466L variant (also known as c.1397G>T), located in coding exon 13 of the NF2 gene, results from a G to T substitution at nucleotide position 1397. The arginine at codon 466 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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