Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225611 | SCV001397895 | pathogenic | Deficiency of galactokinase | 2019-07-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GALK1 are known to be pathogenic (PMID: 7670469, 10790206). This variant has not been reported in the literature in individuals with GALK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe177Serfs*87) in the GALK1 gene. It is expected to result in an absent or disrupted protein product. |