ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) (rs139217120)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000654076 SCV000375073 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000654076 SCV000775966 uncertain significance Charcot-Marie-Tooth disease type 4 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 507 of the SBF2 protein (p.Glu507Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs139217120, ExAC 0.04%). This variant has not been reported in the literature in individuals with SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 306606). 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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