ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1012del (p.Glu338fs)

dbSNP: rs1057516469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410105 SCV000485732 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2016-02-04 criteria provided, single submitter clinical testing
Invitae RCV000410105 SCV001592424 pathogenic Galactosylceramide beta-galactosidase deficiency 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu338Asnfs*21) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Krabbe disease (PMID: 9338580). This variant is also known as 964delG. ClinVar contains an entry for this variant (Variation ID: 370416). For these reasons, this variant has been classified as Pathogenic.

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