ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044217 SCV001208002 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-12-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GALC gene (p.Phe679Leufs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acids of the GALC protein. This variant is present in population databases (rs754507781, ExAC 0.003%). This variant has not been reported in the literature in individuals with GALC-related conditions. This variant disrupts a region of the protein in which other variant(s) (p.Val681Met) have been observed in individuals with GALC-related conditions (PMID: 23462331). This suggests that this may be a clinically significant region of the GALC protein. 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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