Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498766 | SCV000589854 | likely pathogenic | not provided | 2016-06-14 | criteria provided, single submitter | clinical testing | The c.195+1 G>A splice site variant destroys the canonical splice donor site of intron 1. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this variant has no been previously reported to our knowledge, it is interpreted to be likely pathogenic. |
Counsyl | RCV000666305 | SCV000790575 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666305 | SCV001582066 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-11-15 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 1 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Krabbe disease (PMID: 28598007). This variant is also known as c.147+1G>A. ClinVar contains an entry for this variant (Variation ID: 432166). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000498766 | SCV002021212 | pathogenic | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing |