ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1537G>A (p.Val513Ile) (rs372788076)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478684 SCV000573476 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing The V513I variant of uncertain significance in the ELN gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, V513I is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution also occurs at a position not conserved across species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Lastly, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with ELN-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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