Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078209 | SCV000110047 | uncertain significance | not provided | 2012-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000695814 | SCV000824335 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 8 of the GALC gene. It does not directly change the encoded amino acid sequence of the GALC protein. This variant is present in population databases (rs398123178, ExAC 0.003%). This variant has been observed in individuals with Krabbe disease (PMID: 22704718; Invitae). This variant is also known as c.861-10A>G. ClinVar contains an entry for this variant (Variation ID: 92512). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |