ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.293dup (p.Leu98fs)

dbSNP: rs757799254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001270007 SCV001450422 pathogenic not provided 2019-05-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001270007 SCV001714492 likely pathogenic not provided 2019-08-26 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003120521 SCV003787002 pathogenic Galactosylceramide beta-galactosidase deficiency 2022-08-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 988571). This variant is also known as c.293insT. This premature translational stop signal has been observed in individual(s) with Krabbe disease (PMID: 31240153). This variant is present in population databases (rs757799254, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu98Phefs*8) in the GALC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461).

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