ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.486C>A (p.Asp162Glu)

gnomAD frequency: 0.00001  dbSNP: rs767286511
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674413 SCV000799746 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-05-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133503 SCV003816288 uncertain significance not provided 2020-08-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489796 SCV004241989 uncertain significance not specified 2023-12-08 criteria provided, single submitter clinical testing Variant summary: GALC c.486C>A (p.Asp162Glu) results in a conservative amino acid change located in the Glycosyl hydrolase family 59, catalytic domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 249478 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.486C>A has been reported in the literature in two siblings with multiple sclerosis who inherited the variant from their mother who was neurologically normal (Traboulsee_2017). These reports do not provide unequivocal conclusions about association of the variant with Krabbe Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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