ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1887del (p.Trp629fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001212476 SCV001384059 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-09-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GALC gene (p.Trp629Cysfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acids of the GALC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GALC-related conditions. 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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