ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.525C>T (p.Val175=) (rs181066089)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591824 SCV000700290 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV001081964 SCV001017191 benign Galactosylceramide beta-galactosidase deficiency 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081964 SCV001279168 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000591824 SCV001747111 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532905 SCV001748699 likely benign not specified 2021-07-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081964 SCV001461645 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-04-18 no assertion criteria provided clinical testing
GeneDx RCV000591824 SCV001787906 uncertain significance not provided 2021-03-26 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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