ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del)

dbSNP: rs1325744353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001367165 SCV001563505 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-09-13 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with INF2-related conditions. 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. This variant, c.1424_1426del, results in the deletion of 1 amino acid(s) of the INF2 protein (p.Pro475del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV001367165 SCV002792898 uncertain significance Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-02-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481095 SCV004227353 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing PM4

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