Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410105 | SCV000485732 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2016-02-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410105 | SCV001592424 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu338Asnfs*21) in the GALC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Krabbe disease (PMID: 9338580). This variant is also known as 964delG. ClinVar contains an entry for this variant (Variation ID: 370416). For these reasons, this variant has been classified as Pathogenic. |