ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.92G>A (p.Gly31Glu)

gnomAD frequency: 0.00005  dbSNP: rs782625771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328775 SCV001519971 uncertain significance Cutis laxa, autosomal dominant 1 2019-03-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001853139 SCV002130946 uncertain significance Supravalvar aortic stenosis 2024-09-28 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 31 of the ELN protein (p.Gly31Glu). This variant is present in population databases (rs782625771, gnomAD 0.009%). 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: 213194). 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.
GenomeConnect, ClinGen RCV001824672 SCV002075161 not provided Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-09-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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