ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.1540A>G (p.Met514Val) (rs201527155)

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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 RCV000565248 SCV000674131 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203209 SCV000258269 uncertain significance Neurofibromatosis, type 2 2015-06-19 criteria provided, single submitter clinical testing
Invitae RCV000203209 SCV000553674 uncertain significance Neurofibromatosis, type 2 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 514 of the NF2 protein (p.Met514Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs201527155, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been reported in an individual affected with bilateral vestibular schwannomas (PMID: 16983642). ClinVar contains an entry for this variant (Variation ID: 201125). Experimental studies have shown that this missense change may destabilize the structure of the NF2 protein and disrupts its binding to the Lats1 protein (PMID: 26045165). 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.
Mendelics RCV000203209 SCV000839526 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing

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