ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.34G>A (p.Gly12Arg) (rs149127344)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554342 SCV000622210 uncertain significance Supravalvar aortic stenosis 2017-02-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 12 of the ELN protein (p.Gly12Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs149127344, ExAC 0.04%) but has not been reported in the literature in individuals with an ELN-related disease. ClinVar contains an entry for this variant (Variation ID: 228665). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare 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.

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