ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.911A>G (p.His304Arg) (rs1555998800)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533798 SCV000628885 uncertain significance Neurofibromatosis, type 2 2017-03-07 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 304 of the NF2 protein (p.His304Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an 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. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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