ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) (rs773296925)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687839 SCV000815427 uncertain significance Neurofibromatosis, type 2 2020-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 411 of the NF2 protein (p.Arg411Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs773296925, ExAC 0.02%). This variant has not been reported in the literature in individuals with NF2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000791140 SCV000930414 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing

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