ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050236 SCV001214335 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 877 of the INF2 protein (p.Arg877Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs762706488, ExAC 0.01%). This variant has not been reported in the literature in individuals with INF2-related conditions. 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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