ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036434 SCV001199799 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1040 of the INF2 protein (p.Thr1040Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs746392134, ExAC 0.003%). 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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