Submissions for variant NM_000153.4(GALC):c.1162-4del

dbSNP: rs11300320

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078190	SCV000110028	benign	not specified	2014-08-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292380	SCV000389248	benign	Galactosylceramide beta-galactosidase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000588497	SCV000581692	benign	not provided	2018-04-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588497	SCV000695653	benign	not provided	2016-05-16	criteria provided, single submitter	clinical testing	Variant summary: The GALC c.1162-4delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. This variant was found in 104106/106498 control chromosomes (50900 homozygotes) at a frequency of 0.9775395, which is approximately 437 times the estimated maximal expected allele frequency of a pathogenic GALC variant (0.0022361), suggesting this variant is likely a benign polymorphism and the major allele in general population. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Genome-Nilou Lab	RCV000292380	SCV001593260	benign	Galactosylceramide beta-galactosidase deficiency	2021-05-12	criteria provided, single submitter	clinical testing
Invitae	RCV000292380	SCV001721920	benign	Galactosylceramide beta-galactosidase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974956	SCV004793207	benign	GALC-related condition	2019-06-06	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).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000454160	SCV000537964	likely pathogenic	Abnormal brain morphology		flagged submission	research
Mayo Clinic Laboratories, Mayo Clinic	RCV000588497	SCV000800908	benign	not provided	2015-10-21	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000292380	SCV001454067	benign	Galactosylceramide beta-galactosidase deficiency	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078190	SCV001741982	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000588497	SCV001799313	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078190	SCV001917196	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078190	SCV001926847	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078190	SCV001975073	benign	not specified		no assertion criteria provided	clinical testing