ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1781A>C (p.Lys594Thr) (rs782679448)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518999 SCV000621603 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing The K594T variant in the ELN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K594T variant is not observed in large population cohorts (Lek et al., 2016). The K594T variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret K594T as a variant of uncertain significance.

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