ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1363G>A (p.Gly455Arg)

gnomAD frequency: 0.00004  dbSNP: rs782260475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788372 SCV000927457 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760784 SCV005374489 uncertain significance Williams syndrome 2024-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092362 SCV005797019 uncertain significance Supravalvar aortic stenosis 2024-08-10 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 484 of the ELN protein (p.Gly484Arg). This variant is present in population databases (rs782260475, gnomAD 0.002%). 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: 636522). 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 with a negative predictive value of 80%. 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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