ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3931A>G (p.Lys1311Glu) (rs200167746)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699562 SCV000828278 uncertain significance Charcot-Marie-Tooth disease type 4 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1311 of the SBF2 protein (p.Lys1311Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs200167746, ExAC 0.003%). This variant has not been reported in the literature in individuals with SBF2-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; 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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