ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1358-198G>A (rs192461213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512804 SCV000609259 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000512804 SCV000855155 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000512804 SCV000582338 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing The G473D variant has not been published as pathogenic or been reported as benign to our knowledge. Furthermore, it is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G473D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, this substitution occurs at a position that is conserved in mammals. Nonetheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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