ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) (rs869312162)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Albrecht-Kossel-Institute,Medical University Rostock RCV000209785 SCV000246097 uncertain significance Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209219 SCV000246098 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000209785 SCV000863870 likely pathogenic Fabry disease 2018-05-17 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000606004 SCV000731441 uncertain significance not specified 2017-03-30 criteria provided, single submitter clinical testing The p.Ala352Gly variant in GLA has not been previously reported in individuals w ith clinical features of Fabry disease, but was reported in two individuals with unreported clinical status who were tested for Fabry disease (Lukas 2016). It h as not been observed in large population studies. In vitro studies suggest that that this variant has a mild reduction in enzymatic activity (Lukas 2016), but t hese assays may not accurately represent biological function. Computational pred iction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of the p.Ala352Gly variant is uncert ain.

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