ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1358-198G>A

gnomAD frequency: 0.00008  dbSNP: rs192461213
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000512804 SCV000582338 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 429705; Landrum et al., 2016)
CeGaT Center for Human Genetics Tuebingen RCV000512804 SCV000609259 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ELN: BP4
Eurofins Ntd Llc (ga) RCV000512804 SCV000855155 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
Invitae RCV002524034 SCV003495424 uncertain significance Supravalvar aortic stenosis 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 473 of the ELN protein (p.Gly473Asp). This variant is present in population databases (rs192461213, gnomAD 0.006%). 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: 429705). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323569 SCV004029292 uncertain significance not specified 2023-07-29 criteria provided, single submitter clinical testing

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