Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001388359 | SCV001589294 | pathogenic | Salla disease | 2020-10-04 | criteria provided, single submitter | clinical testing | Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SLC17A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly49Valfs*10) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. |