ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.34G>A (p.Gly12Arg)

gnomAD frequency: 0.00008  dbSNP: rs149127344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221011 SCV000271760 uncertain significance not specified 2016-01-14 criteria provided, single submitter clinical testing The p.Gly12Arg variant in ELN has not been previously reported in individuals wi th pulmonary disease, but has been identified in 5/57536 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s149127344). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Gly12Arg variant is uncertain.
Invitae RCV000554342 SCV000622210 uncertain significance Supravalvar aortic stenosis 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 12 of the ELN protein (p.Gly12Arg). This variant is present in population databases (rs149127344, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ELN-related conditions. ClinVar contains an entry for this variant (Variation ID: 228665). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ELN protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001824302 SCV002074024 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID#228665)

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