ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.583-1G>C (rs1555383310)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672459 SCV000797565 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2018-01-31 criteria provided, single submitter clinical testing
Invitae RCV000672459 SCV001588959 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-10-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 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 (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with Krabbe disease (PMID: 26108647, 26795590). ClinVar contains an entry for this variant (Variation ID: 556448). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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