Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672034 | SCV000797089 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672034 | SCV003442360 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2022-06-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects GALC function (PMID: 27638593). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 556087). This variant is also known as p.Y113*. This premature translational stop signal has been observed in individual(s) with Krabbe disease (PMID: 30777126). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr129*) 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). |