ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1216G>A (p.Gly406Ser)

gnomAD frequency: 0.00006  dbSNP: rs782563418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588225 SCV001823654 uncertain significance not provided 2021-05-10 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001866211 SCV002196638 uncertain significance Supravalvar aortic stenosis 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 406 of the ELN protein (p.Gly406Ser). This variant is present in population databases (rs782563418, gnomAD 0.02%). This missense change has been observed in individual(s) with ELN-related conditions (PMID: 34422331). This variant is also known as c.G1108A (p.G370S). ClinVar contains an entry for this variant (Variation ID: 1217552). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV002573353 SCV003700689 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.1216G>A (p.G406S) alteration is located in exon 20 (coding exon 20) of the ELN gene. This alteration results from a G to A substitution at nucleotide position 1216, causing the glycine (G) at amino acid position 406 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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