ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1959G>C (p.Glu653Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811705 SCV000951986 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 653 of the INF2 protein (p.Glu653Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with INF2-related disease. 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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