ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.-80_-75delATCAGC (rs564526560)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780272 SCV000917402 uncertain significance not specified 2017-12-26 criteria provided, single submitter clinical testing Variant summary: The GALC c.-84_-79delCAGCAT variant involves the deletion of 6 nucleotides in the 5'UTR of the gene. One in silico tool predicts the variant is a polymorphism. This variant was found in 6/30942 control chromosomes, observed exclusively in the East Asian subpopulation at a frequency of 0.003699 (6/1622). This frequency is about 1.5 times the estimated maximal expected allele frequency of a pathogenic GALC variant (0.0022361), suggesting this may be a benign polymorphism found primarily in the populations of East Asian origin. The variant has been reported in a screening study as being associated with low GALC activity in dried blood spots in two children classified as being at high risk for KD (Orsini_2016), however it was co-occurring with GALC p.L618S (in one homozygote) and p.R380W and p.L618S in a compound heterozygote (both DM in HGMD). Clinical diagnostic laboratories and reputable databases have not classified this variant. Taken together, this variant is classified as a VUS-possibly benign until additional information becomes available.
Natera, Inc. RCV001272255 SCV001454080 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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