ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) (rs1555373599)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543208 SCV000652132 pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2017-12-12 criteria provided, single submitter clinical testing This variant, c.490_498delGCCCTGGAC, results in the deletion of 3 amino acids of the INF2 protein (p.Ala164_Asp166del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in 2 individuals affected with Charcot-Marie-Tooth Disease (CMT) and Focal Segmental Glomerulosclerosis and seen de novo in an individual affected with CMT with advanced glomerular nephropathy along with progressive neuropathy (PMID: 22187985, Invitae). For these reasons, this variant has been classified as Pathogenic.

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