ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs140085632
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484614 SCV000572742 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001856870 SCV002168527 uncertain significance Supravalvar aortic stenosis 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 710 of the ELN protein (p.Gly710Glu). This variant is present in population databases (rs140085632, gnomAD 0.003%). 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: 423097). 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.

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