ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.758T>C (p.Ile253Thr) (rs727505292)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156824 SCV000206545 uncertain significance not specified 2014-09-25 criteria provided, single submitter clinical testing The Ile253Thr variant in GLA has been reported in 1 male with Fabry disease (Sco tt 2013). It was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Ile253Thr va riant is uncertain.
Albrecht-Kossel-Institute,Medical University Rostock RCV000209022 SCV000246069 pathogenic Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209285 SCV000246070 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research

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