Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528992 | SCV000627122 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2019-01-17 | criteria provided, single submitter | clinical testing | In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in GALC are known to be pathogenic (PMID: 9272171, 16607461). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GALC-related disease. This sequence change affects a donor splice site in intron 10 of the GALC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Natera, |
RCV000528992 | SCV002093635 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2017-06-20 | no assertion criteria provided | clinical testing |