ClinVar Miner

Submissions for variant NC_000009.11:g.(130264298_130265053)_(130265271_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM RCV000735277 SCV000851995 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P 2018-11-07 no assertion criteria provided clinical testing Heterozygote pathogenic variant has been described in LRSAM1 gene disrupting the RING domain (Zhao et al. 2018, https://doi.org/10.1111/jns.12247); review of all reported pathogenic variant and the phenotype are consistent. The deletion variant involving entire exon 25 has not been reported currently, and this exon codes for RING domain of the protein.

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