ClinVar Miner

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

dbSNP: rs754507781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044217 SCV001208002 pathogenic Galactosylceramide beta-galactosidase deficiency 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe679Leufs*9) in the GALC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the GALC protein. This variant is present in population databases (rs754507781, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GALC-related conditions. ClinVar contains an entry for this variant (Variation ID: 841901). This variant disrupts a region of the GALC protein in which other variant(s) (p.Val681Met) have been determined to be pathogenic (PMID: 23462331, 31885218). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003132161 SCV003808556 uncertain significance not provided 2023-02-05 criteria provided, single submitter clinical testing

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