ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.982C>T (p.Gln328Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269502 SCV001449533 likely pathogenic not provided 2019-08-27 criteria provided, single submitter clinical testing
Invitae RCV001390629 SCV001592425 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln328*) 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 in an individual with Krabbe disease (PMID: 17579360). This variant is also known as p.Gln312X in the literature. 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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