ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2032G>A (p.Gly678Ser)

gnomAD frequency: 0.00006  dbSNP: rs375579231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197280 SCV000250051 uncertain significance not provided 2023-01-27 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 RCV001320217 SCV001510993 uncertain significance Supravalvar aortic stenosis 2024-12-29 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 740 of the ELN protein (p.Gly740Ser). This variant also falls at the last nucleotide of exon 31, which is part of the consensus splice site for this exon. This variant is present in population databases (rs375579231, gnomAD 0.02%). 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: 213183). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV005031728 SCV005667455 uncertain significance Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 2024-04-01 criteria provided, single submitter clinical testing

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