Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032332 | SCV001195639 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2019-08-17 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon 10 of the GALC gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GALC-related conditions. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). 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. |