ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2659G>A (p.Glu887Lys) (rs748529803)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560810 SCV000652093 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2017-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 887 of the INF2 protein (p.Glu887Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. The frequency data for this variant (rs748529803) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a INF2-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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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