Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723390 | SCV000227031 | pathogenic | not provided | 2014-08-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000175531 | SCV000695676 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2017-01-19 | criteria provided, single submitter | clinical testing | Variant summary: The GALC c.205C>T (p.Arg69X) variant results in a premature termination codon, predicted to cause a truncated or absent GALC protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/119986 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic GALC variant (0.0022361). The variant was reported in multiple affected individuals in the literature, and was shown to result in <10% GALC activity in a functional study where the variant was expressed in COS1 cells (Saavedra-Matiz_2016). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV000175531 | SCV000950536 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-11-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg69*) in the GALC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). This variant is present in population databases (rs771111145, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Krabbe disease (PMID: 20886637). ClinVar contains an entry for this variant (Variation ID: 195020). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000723390 | SCV002021227 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000175531 | SCV001132200 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2015-07-15 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000175531 | SCV002093659 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2021-10-19 | no assertion criteria provided | clinical testing |