ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs397515869
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Total submissions: 12
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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.
Invitae 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: 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

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