ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1])

dbSNP: rs782202364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534390 SCV001751315 likely benign not provided 2022-05-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001873793 SCV002122368 uncertain significance Supravalvar aortic stenosis 2025-01-21 criteria provided, single submitter clinical testing This variant, c.1540_1575del, results in the deletion of 12 amino acid(s) of the ELN protein (p.Val514_Gly525del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782202364, gnomAD 0.01%). 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: 1178166). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV005038253 SCV005667454 uncertain significance Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 2024-05-09 criteria provided, single submitter clinical testing

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