ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.176del (p.Gly59fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383049 SCV001582067 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly59Alafs*13) in the GALC gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Krabbe disease (PMID: 22704718). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.175delG 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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