ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) (rs421262)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078197 SCV000110035 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078197 SCV000302714 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290698 SCV000389234 benign Galactosylceramide beta-galactosidase deficiency 2018-03-06 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000586993 SCV000695675 benign not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The GALC c.1921A>G (p.Thr641Ala) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to isoform mismatch). This variant was found in 118335/120404 control chromosomes (58239 homozygotes) at a frequency of 0.9828162, which is approximately 440 times the estimated maximal expected allele frequency of a pathogenic GALC variant (0.0022361), highly suggesting this variant is a benign polymorphism and the ancestral allele. The variant has been found to co-occur in Krabbe Disease patients with compound heterozygous pathogenic variants that would explain the patients phenotype. In addition, a clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as Benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000290698 SCV000733401 benign Galactosylceramide beta-galactosidase deficiency no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586993 SCV000800900 benign not provided 2015-10-19 no assertion criteria provided clinical testing

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