Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de genetique medicale, |
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. |