ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2611-3_2766delinsA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205697 SCV001376966 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 2019-08-13 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 18 (c.2611-3_2766delinsA) of the INF2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with INF2-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in INF2 cause disease. 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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