Submissions for variant NM_000169.3(GLA):c.978G>A (p.Lys326=)

gnomAD frequency: 0.00100  dbSNP: rs151195362

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035316	SCV000058964	benign	not specified	2015-04-18	criteria provided, single submitter	clinical testing	p.Lys326Lys in exon 6 of GLA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (24/8490) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; rs151195362).
Eurofins Ntd Llc (ga)	RCV000035316	SCV000202796	benign	not specified	2014-04-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226702	SCV000283693	benign	Fabry disease	2025-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035316	SCV000302838	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618274	SCV000736814	likely benign	Cardiovascular phenotype	2016-01-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000226702	SCV001356729	benign	Fabry disease	2018-12-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035316	SCV001519437	likely benign	not specified	2021-03-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001659952	SCV001881827	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000226702	SCV002054328	benign	Fabry disease	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001659952	SCV005331030	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	GLA: BP4, BS2
Clinical Genetics, Academic Medical Center	RCV000035316	SCV001926168	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001659952	SCV001926436	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001659952	SCV001963342	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001659952	SCV001974782	likely benign	not provided		no assertion criteria provided	clinical testing