ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.845T>C (p.Val282Ala)

dbSNP: rs1601630493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017843 SCV001179000 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-22 criteria provided, single submitter clinical testing The p.V282A variant (also known as c.845T>C), located in coding exon 9 of the NF2 gene, results from a T to C substitution at nucleotide position 845. The valine at codon 282 is replaced by alanine, an amino acid with similar 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.
Invitae RCV001304633 SCV001493925 uncertain significance Neurofibromatosis, type 2 2023-06-09 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NF2 protein function. ClinVar contains an entry for this variant (Variation ID: 822464). 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 valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 282 of the NF2 protein (p.Val282Ala).
Genome-Nilou Lab RCV001304633 SCV002044863 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001304633 SCV004822605 uncertain significance Neurofibromatosis, type 2 2023-11-30 criteria provided, single submitter clinical testing

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