ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.286del (p.Leu96fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003318517 SCV003935302 likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E 2023-06-28 criteria provided, single submitter clinical testing The INF2-variant c.286del is classified by our institute as a likely pathogenic variant, as it is not present in any databases (gnomAD / ExAC) and leads to a premature stop codon due to a frameshift mutation. Our patient presented with distal symmetric polyneuropathy progressive distal muscle weakness. thus the molecular diagnosis fitted the clinical symptoms.

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