ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1793G>A (p.Trp598Ter)

dbSNP: rs1884845930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038602 SCV001202081 pathogenic Galactosylceramide beta-galactosidase deficiency 2023-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp598*) in the GALC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). ClinVar contains an entry for this variant (Variation ID: 837302). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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