ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822938 SCV000963766 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 987 of the INF2 protein (p.Arg987Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs757988412, ExAC 0.002%). 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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