ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) (rs140085632)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765974 SCV000897396 uncertain significance Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000484614 SCV000572742 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing The G648E variant in the ELN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G648E 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). The G648E 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. However, this substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G648E as a variant of uncertain significance.

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