ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.314T>A (p.Val105Glu) (rs1555373363)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546447 SCV000652075 likely pathogenic Charcot-Marie-Tooth disease, dominant intermediate E 2017-06-20 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 105 of the INF2 protein (p.Val105Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Charcot-Marie-Tooth disease (CMT) (Invitae database). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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