ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) (rs188588431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546962 SCV000657934 uncertain significance Charcot-Marie-Tooth disease type 4 2018-09-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 356 of the SBF2 protein (p.Arg356Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs188588431, ExAC 0.04%). 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: "Probably 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173112 SCV001336188 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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