ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) (rs864622502)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204341 SCV000260873 uncertain significance Charcot-Marie-Tooth disease type 4 2015-09-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1489 of the SBF2 protein (p.Glu1489Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this 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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