Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000811367 | SCV000951628 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-09-28 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 12-17 of the GALC gene. The 5' boundary is likely confined to intron 11. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with GALC-related disease. This variant disrupts the p.Tyr567 amino acid residue in GALC. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 9338580, 22520351, 27126738, 26865610), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |