Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229403 | SCV001401848 | pathogenic | Deficiency of galactokinase | 2019-09-06 | 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 present in population databases (rs773559496, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Pro237Leufs*27) in the GALK1 gene. It is expected to result in an absent or disrupted protein product. |