Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034962 | SCV001198266 | pathogenic | Neuropathy, hereditary motor and sensory, type 6B | 2019-01-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC25A46 are known to be pathogenic (PMID: 26168012, 26951855, 27543974). This variant has not been reported in the literature in individuals with SLC25A46-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro62Leufs*32) in the SLC25A46 gene. It is expected to result in an absent or disrupted protein product. |