Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672459 | SCV000797565 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672459 | SCV001588959 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2020-12-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individual(s) with Krabbe disease (PMID: 26108647, 26795590). ClinVar contains an entry for this variant (Variation ID: 556448). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 5 of the GALC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). |