ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)

dbSNP: rs781838239
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594409 SCV000708935 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000821525 SCV000962284 uncertain significance Supravalvar aortic stenosis 2024-01-18 criteria provided, single submitter clinical testing This variant, c.1178_1201del, results in the deletion of 8 amino acid(s) of the ELN protein (p.Gly393_Gly400del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781838239, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with supravalvular aortic stenosis or progeroid disease (PMID: 10942104, 31829210). This variant is also known as 1175–1198del and NM_ 001278913.1:c.1063_1086del. ClinVar contains an entry for this variant (Variation ID: 502265). 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.
CeGaT Center for Human Genetics Tuebingen RCV000594409 SCV001250346 benign not provided 2024-07-01 criteria provided, single submitter clinical testing ELN: BS1, BS2
GeneDx RCV000594409 SCV001783053 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing Reported as c.1175_1198del (due to alternate nomenclature) in one individual with supravalvular aortic stenosis, inherited from an unaffected parent and present in compound heterozygous state with an ELN frameshift variant (PMID: 10942104); Identified in a cohort of patients with premature aging syndromes in published literature; referred to as c.1063_1086del due to alternate nomenclature (PMID: 31829210); In-frame deletion of 8 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31829210, 10942104)
Baylor Genetics RCV003147511 SCV003835417 uncertain significance Williams syndrome 2022-07-22 criteria provided, single submitter clinical testing

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