ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1055C>T (p.Thr352Met) (rs764441073)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690349 SCV000818031 uncertain significance Neurofibromatosis, type 2 2020-07-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 352 of the NF2 protein (p.Thr352Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with neurofibromatosis type 2 (NF2) (PMID: 8081368). However, this variant has also been observed in several individuals with no clinical indications of NF2 (Invitae). The clinical significance of this variant is currently uncertain. ClinVar contains an entry for this variant (Variation ID: 569661). Experimental studies have shown that this missense change affects NF2 protein function (PMID: 10712203, 11779178). 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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