ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) (rs755032702)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808513 SCV000948623 uncertain significance Neurofibromatosis, type 2 2019-11-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NF2 gene (p.Arg568Glyfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acids of the NF2 protein. This variant is present in population databases (rs755032702, ExAC 0.01%). This variant has been observed in an individual affected with medulloblastoma (PMID: 29489754). ClinVar contains an entry for this variant (Variation ID: 652858). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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