Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383048 | SCV001582065 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2020-09-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly104Asnfs*4) in the GALC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). This variant has been observed in individual(s) with Krabbe disease (PMID: 20886637). This variant is not present in population databases (ExAC no frequency). |