Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044217 | SCV001208002 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe679Leufs*9) in the GALC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the GALC protein. This variant is present in population databases (rs754507781, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GALC-related conditions. ClinVar contains an entry for this variant (Variation ID: 841901). 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. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003132161 | SCV003808556 | uncertain significance | not provided | 2023-02-05 | criteria provided, single submitter | clinical testing |