ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) (rs769851272)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175126 SCV000226558 uncertain significance not provided 2014-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174873 SCV001338272 uncertain significance not specified 2020-02-03 criteria provided, single submitter clinical testing Variant summary: GALC c.1912G>A (p.Gly638Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.9e-05 in 246188 control chromosomes, exclusively at a frequency of 0.00095 within the East Asian subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in GALC causing Krabbe Disease (6.9e-05 vs 0.0022), allowing no conclusion about variant significance. c.1912G>A has been reported in the literature in at least one individual affected with Krabbe Disease (example-Debs_2013). This data does not allow any conclusion about variant significance. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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