ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.742G>A (p.Asp248Asn)

gnomAD frequency: 0.11424  dbSNP: rs34362748
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078206 SCV000110044 benign not specified 2017-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891531 SCV000302726 benign GALC-related disorder 2020-11-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000340530 SCV000389255 benign 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 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.
Invitae RCV000340530 SCV000932847 other Galactosylceramide beta-galactosidase deficiency 2019-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000340530 SCV001750174 benign Galactosylceramide beta-galactosidase deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000675262 SCV001935945 benign not provided 2019-10-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675262 SCV000800911 uncertain significance not provided 2015-10-26 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078206 SCV001924636 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078206 SCV001970838 benign not specified no assertion criteria provided clinical testing
GenomeConnect - Brain Gene Registry RCV000675262 SCV002760028 not provided not provided no assertion provided phenotyping only Variant reported in multiple GenomeConnect participants by mulitple clinical testing laboratories. Variant classified as other/Benign by all laboratories and reported most recently on 05-11-2022 by Variantxy and on 01-25-2022 by Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website -
GeneReviews RCV000340530 SCV004035011 not provided Galactosylceramide beta-galactosidase deficiency no assertion provided literature only

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