ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.926C>T (p.Ala309Val) (rs869312155)

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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 RCV000209571 SCV000246079 uncertain significance Fabry disease 2014-01-01 no assertion criteria provided research
Albrecht-Kossel-Institute,Medical University Rostock RCV000209717 SCV000246080 drug response Deoxygalactonojirimycin response 2014-01-01 no assertion criteria provided research
GeneDx RCV000414172 SCV000491848 uncertain significance not provided 2016-11-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the GLA gene. While the A309V variant has not been published in association with cardiomyopathy, it has been reported in a patient undergoing testing for Fabry disease (Lukas et al., 2016). However, functional studies show that cells expressing this variant have approximately 50% enzyme activity when compared to wild type cells which is consistent with a mild form of Fabry disease (Lukas et al., 2016). The A309V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species and where Valine is the wild type in one non-mammalian species. In silico analysis suggests this variant likely does not alter the protein structure/function. Nevertheless, the A309V was not observed in the Exome Aggregation Consortium.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Gharavi Laboratory,Columbia University RCV000414172 SCV000920680 uncertain significance not provided 2018-09-16 criteria provided, single submitter research

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