ClinVar Miner

Submissions for variant NM_000153.3(GALC):c.599C>A (p.Ser200Ter) (rs786204618)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169386 SCV000220777 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2014-10-08 criteria provided, single submitter literature only
Invitae RCV000169386 SCV000819089 pathogenic Galactosylceramide beta-galactosidase deficiency 2018-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser200*) in the GALC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with Krabbe disease (PMID: 23462331). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 189003). Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). For these reasons, this variant has been classified as Pathogenic.

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