ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.73A>T (p.Arg25Trp)

dbSNP: rs2064716522
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041379 SCV001204991 uncertain significance Neurofibromatosis, type 2 2019-05-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 25 of the NF2 protein (p.Arg25Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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