Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673851 | SCV000799099 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673851 | SCV002242568 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2021-02-18 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this variant affects GALC protein function (PMID: 27638593). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GALC protein. Other variant(s) that disrupt this region (p.Trp629Cysfs*6) have been determined to be pathogenic (PMID: 11151421, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with Krabbe disease (PMID: 29120458). This variant is also known as 1837insA. ClinVar contains an entry for this variant (Variation ID: 557679). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp629Metfs*9) in the GALC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the GALC protein. |