ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202750 SCV001373876 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1225 of the INF2 protein (p.Arg1225Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs779017318, ExAC 0.004%). 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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