ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1463C>T (p.Pro488Leu)

gnomAD frequency: 0.00001  dbSNP: rs1173959854
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011703 SCV001172056 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The p.P488L variant (also known as c.1463C>T), located in coding exon 14 of the NF2 gene, results from a C to T substitution at nucleotide position 1463. The proline at codon 488 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well 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.
GeneDx RCV001759691 SCV001995417 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001800918 SCV002044895 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001800918 SCV002155070 uncertain significance Neurofibromatosis, type 2 2023-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 819284). This variant has not been reported in the literature in individuals affected with NF2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 488 of the NF2 protein (p.Pro488Leu). 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.
All of Us Research Program, National Institutes of Health RCV001800918 SCV004825647 uncertain significance Neurofibromatosis, type 2 2023-05-31 criteria provided, single submitter clinical testing

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