ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)

dbSNP: rs1889499325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254082 SCV001429999 likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2020-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570553 SCV003196146 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-05-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with INF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.232_234del, results in the deletion of 1 amino acid(s) of the INF2 protein (p.Leu78del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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