ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1153G>T (p.Glu385Ter)

dbSNP: rs121908010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004022 SCV003443440 pathogenic Galactosylceramide beta-galactosidase deficiency 2022-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu385*) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 3818). This variant is also known as codon 369 (GAA>TAA). This premature translational stop signal has been observed in individual(s) with Krabbe disease (PMID: 8297359).
OMIM RCV000004022 SCV000024188 pathogenic Galactosylceramide beta-galactosidase deficiency 2010-12-01 no assertion criteria provided literature only

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