Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631447 | SCV000752521 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2019-01-20 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 8 of the GALC gene. It preserves the integrity of the reading frame. Similar deletions encompassing exon 8 of the GALC have been reported in individuals affected with Krabbe disease (PMID: 22704718, 26795590). A missense variant located in exon 8 of the GALC gene (p.Gly286Asp) has been determined to be pathogenic (PMID: 9272171, 24252386, 10477434, 26865610). This suggests that this region of the GALC protein include residues important for GALC function. For these reasons, this variant has been classified as Pathogenic. |