Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001378266 | SCV001575802 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2022-11-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. Experimental studies have shown that this frameshift affects GALC function (PMID: 27638593). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 1067094). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the GALC gene (p.Phe679Cysfs*13). 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 and extend the protein by 5 additional amino acid residues. |
Revvity Omics, |
RCV003130515 | SCV003816287 | uncertain significance | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing |