ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) (rs1057516453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482303 SCV000567460 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing The Y630X nonsense variant in the GALC gene is predicted to cause loss of normal protein function through protein truncation. Other nonsense variants including one downstream of Y630X (W663X) have been reported in the Human Gene Mutation Database in association withKrabbe disease (Stenson et al., 2014). Therefore, although this variant has not beenreported previously to our knowledge, we interpret it to be pathogenic.
Counsyl RCV000411823 SCV000485702 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2016-02-01 no assertion criteria provided clinical testing

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