ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) (rs374684004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000308410 SCV000385307 uncertain significance Focal segmental glomerulosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545679 SCV000652115 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 1184 of the INF2 protein (p.Ala1184Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs374684004, ExAC 0.01%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with INF2-related disease. ClinVar contains an entry for this variant (Variation ID: 312710). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly damaging"; Align-GVGD: "Class C0"). 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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