ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.500A>G (p.Asn167Ser)

gnomAD frequency: 0.00004  dbSNP: rs768993170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594045 SCV000703060 uncertain significance not provided 2016-10-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469215 SCV002765938 uncertain significance not specified 2022-11-04 criteria provided, single submitter clinical testing Variant summary: GALC c.500A>G (p.Asn167Ser) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 249508 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.500A>G has been reported in the literature in individuals with low GALC activity via newborn screening, without strong evidence for causality (Orsini_2016). These reports do not provide unequivocal conclusions about association of the variant with Krabbe Disease. The variant was reported as having slightly reduced GALC activity compared to wild-type in COS1 cells (Saavedra-Martiz_2016). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002497254 SCV002781258 uncertain significance Galactosylceramide beta-galactosidase deficiency 2022-05-16 criteria provided, single submitter clinical testing

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