Submissions for variant NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) (rs878855130)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232329	SCV000290953	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-04-13	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with glutamine at codon 46 of the SBF2 protein (p.Glu46Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 241608). 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, 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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