ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000613255 SCV000914047 benign Fabry disease 2018-10-26 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
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 2018-01-01 criteria provided, single submitter clinical testing
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 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.

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