Submissions for variant NM_000153.4(GALC):c.550C>T (p.Arg184Cys)

gnomAD frequency: 0.03877  dbSNP: rs1805078

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078203	SCV000110041	benign	not specified	2015-10-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078203	SCV000302723	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000355494	SCV000389258	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.
Invitae	RCV000355494	SCV000627133	other	Galactosylceramide beta-galactosidase deficiency	2019-01-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000355494	SCV001750085	benign	Galactosylceramide beta-galactosidase deficiency	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001647048	SCV001859236	benign	not provided	2018-01-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32661301, 26865610, 26795590, 7581365, 21228398, 20981092, 22995991)
Clinical Genetics, Academic Medical Center	RCV000078203	SCV001919245	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078203	SCV001967066	benign	not specified		no assertion criteria provided	clinical testing
GeneReviews	RCV000355494	SCV004035007	not provided	Galactosylceramide beta-galactosidase deficiency		no assertion provided	literature only