ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)

gnomAD frequency: 0.00001  dbSNP: rs751942076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202248 SCV001373354 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 526 of the INF2 protein (p.Cys526Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs751942076, ExAC 0.002%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with INF2-related conditions.

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