Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673412 | SCV000798612 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2018-03-21 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000673412 | SCV003442346 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-02-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 557290). Disruption of this splice site has been observed in individual(s) with Krabbe disease (PMID: 23462331). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs777955784, gnomAD 0.006%). This sequence change affects a splice site in intron 16 of the GALC gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. |