Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001212476 | SCV001384059 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2022-11-07 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 942480). This premature translational stop signal has been observed in individual(s) with GALC-related conditions (Invitae). This variant disrupts a region of the GALC protein in which other variant(s) (p.Val681Met) have been determined to be pathogenic (PMID: 23462331, 31885218). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change creates a premature translational stop signal (p.Trp629Cysfs*6) 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. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. |