ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057516816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410107 SCV000486273 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2016-04-28 criteria provided, single submitter clinical testing
Invitae RCV000410107 SCV001223290 pathogenic Galactosylceramide beta-galactosidase deficiency 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr43*) 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 0.06%). This variant has not been reported in the literature in individuals affected with GALC-related conditions. ClinVar contains an entry for this variant (Variation ID: 370855). For these reasons, this variant has been classified as Pathogenic.

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