ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.328G>A (p.Ala110Thr) (rs137953195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492857 SCV000582136 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing The A110T variant of uncertain significance in the ELN gene has not been published as pathogenic or been reported as benign to our knowledge. The A110T variant is observed in 51/66,716 (0.08%) alleles from individuals of European (Non-Finnish) ancestry and in 9/6,584 (0.14%) alleles from individuals of European (Finnish) ancestry in the Exome Aggregation Consortium (Lek et al., 2016). The A110T 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 where only amino acids with similar properties to alanine are tolerated across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with cutis laxa or supravalvular aortic stenosis (Stenson et al., 2014).
Illumina Clinical Services Laboratory,Illumina RCV000327769 SCV000469868 likely benign Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382394 SCV000469869 likely benign Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing

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