ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.659C>T (p.Pro220Leu) (rs201012726)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198008 SCV000250040 likely pathogenic not provided 2015-05-05 criteria provided, single submitter clinical testing The P220L variant in the ELN gene has been previously published as a mutation in a patient and his mother, both affected with supravalvular aortic stenosis (Metcalfe et al., 2000). The P220L variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P220L 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense mutation in a nearby residue (P211S) has been reported in association with cutis laxa, supporting the functional importance of this region of the protein. The P220L variant is a strong candidate for a disease-causing mutation, however the possibility it may be a rare benign variant cannot be excluded. This variant was found in ELN.
Illumina Clinical Services Laboratory,Illumina RCV000279620 SCV000469876 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334634 SCV000469877 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing

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