ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) (rs397515869)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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; 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 RCV000858411 SCV000748702 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Color 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613255 SCV000734722 likely benign Fabry disease no assertion criteria provided clinical testing

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