ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1632T>C (p.Asp544=) (rs9672064)

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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 RCV000588091 SCV000695670 likely benign not provided 2016-12-04 criteria provided, single submitter clinical testing Variant summary: The c.1632C>T (p.Asp544=) in GALC gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.00058 (70/120542 chrs tested), predominantly in individuals of African descent (0.0066; 64/9800 chrs tested). The latter freuency exceeds the estimated maximal expected allele frequency of a pathogenic variant in GALC gene (0.0022). The variant has been reported in an individual with biochemically confirmed Krabble disease who was homozygous for p.G553R a known pathogenic variant and, therefore, p.Asp544= was considered to be a neutral polymorphism. Taking together, the variant was classified as Likely Benign.
Invitae RCV001085542 SCV001021691 benign Galactosylceramide beta-galactosidase deficiency 2020-12-04 criteria provided, single submitter clinical testing

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