ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1358-199G>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734749 SCV000862917 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709804 SCV000840132 not provided Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis no assertion provided phenotyping only 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.
Invitae RCV000813256 SCV000953608 uncertain significance Supravalvar aortic stenosis 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 473 of the ELN protein (p.Gly473Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs781963901, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with ELN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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