ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.320_322del (p.Ala107del)

dbSNP: rs1889509458
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303268 SCV001492508 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2020-10-26 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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, c.320_322del, results in the deletion of 1 amino acid(s) of the INF2 protein (p.Ala107del), but otherwise preserves the integrity of the reading frame.

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