ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062997 SCV001227825 pathogenic Galactosylceramide beta-galactosidase deficiency 2019-02-14 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 668 of the GALC protein (p.Thr668Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Krabbe disease (PMID: 24252386). This variant is also referred to as Thr652Pro in the literature. This variant has been reported to affect GALC protein function (PMID: 29615819, 24252386). For these reasons, this variant has been classified as Pathogenic.

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