Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001391001 | SCV001592916 | pathogenic | Giant axonal neuropathy 1 | 2021-07-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GAN are known to be pathogenic (PMID: 12655563, 14718689, 23890932). This variant has not been reported in the literature in individuals with GAN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe331Leufs*30) in the GAN gene. It is expected to result in an absent or disrupted protein product. |