ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) (rs200594508)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556387 SCV000657958 uncertain significance Charcot-Marie-Tooth disease type 4 2017-04-19 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1293 of the SBF2 protein (p.Lys1293Glu). 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 (rs200594508, ExAC 0.09%) but has not been reported in the literature in individuals with an SBF2-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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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