ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.583-6T>A (rs398123176)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078204 SCV000110042 uncertain significance not provided 2014-08-07 criteria provided, single submitter clinical testing
Invitae RCV001237592 SCV001410358 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-10-15 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the GALC gene. It does not directly change the encoded amino acid sequence of the GALC protein. This variant is present in population databases (rs398123176, ExAC 0.003%). This variant has been observed in several individuals affected with Krabbe disease (PMID: 30777126, Invitae). ClinVar contains an entry for this variant (Variation ID: 92507). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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