ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.302_308dup (p.Gly104fs)

dbSNP: rs2139758703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383048 SCV001582065 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly104Asnfs*4) in the GALC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). This variant has been observed in individual(s) with Krabbe disease (PMID: 20886637). This variant is not present in population databases (ExAC no frequency).

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