ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1405A>G (p.Met469Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037619 SCV001201043 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-03-28 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 469 of the INF2 protein (p.Met469Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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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