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

gnomAD frequency: 0.11424  dbSNP: rs34362748

Total submissions: 11

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 condition	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 - https://braingeneregistry.wustl.edu/.
GeneReviews	RCV000340530	SCV004035011	not provided	Galactosylceramide beta-galactosidase deficiency		no assertion provided	literature only