ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1884dup (p.Trp629fs)

dbSNP: rs1336726861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673851 SCV000799099 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673851 SCV002242568 pathogenic Galactosylceramide beta-galactosidase deficiency 2021-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp629Metfs*9) in the GALC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the GALC protein. This variant has been observed in individual(s) with Krabbe disease (PMID: 29120458). This variant is also known as 1837insA. ClinVar contains an entry for this variant (Variation ID: 557679). Experimental studies have shown that this variant affects GALC protein function (PMID: 27638593). This variant disrupts the C-terminus of the GALC protein. Other variant(s) that disrupt this region (p.Trp629Cysfs*6) have been determined to be pathogenic (PMID: 11151421, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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