Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383049 | SCV001582067 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2020-07-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly59Alafs*13) in the GALC gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Krabbe disease (PMID: 22704718). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.175delG in the literature. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001780318 | SCV002024143 | pathogenic | not provided | 2020-08-05 | criteria provided, single submitter | clinical testing |