Submissions for variant NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)

gnomAD frequency: 0.00001  dbSNP: rs397515869

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035301	SCV000058949	likely benign	not specified	2015-03-18	criteria provided, single submitter	clinical testing	p.Thr385Ala in exon 7 of GLA: This variant is not expected to be disease causing on its own because it has been identified in 0.5% (53/10122; including 36 males ) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs397515869). Furthermore, it has been identified by our laboratory in 2 adults (1 male, 1 female) with DCM and did not segregate with disease in either family.
GeneDx	RCV000035301	SCV000207836	likely benign	not specified	2016-11-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000613255	SCV000748702	likely benign	Fabry disease	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000613255	SCV000914047	benign	Fabry disease	2018-10-26	criteria provided, single submitter	clinical testing
Mendelics	RCV000613255	SCV001141975	likely benign	Fabry disease	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613255	SCV002054326	benign	Fabry disease	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345271	SCV002622189	benign	Cardiovascular phenotype	2020-01-07	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613255	SCV000734722	likely benign	Fabry disease		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000613255	SCV001457721	likely benign	Fabry disease	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573054	SCV001798360	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573054	SCV001967678	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573054	SCV001979050	likely benign	not provided		no assertion criteria provided	clinical testing