ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) (rs781838239)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594409 SCV000708935 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000821525 SCV000962284 uncertain significance Supravalvar aortic stenosis 2018-10-23 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ELN-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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 Praxis fuer Humangenetik Tuebingen RCV000594409 SCV001250346 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000594409 SCV001783053 uncertain significance not provided 2021-05-25 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 (Urban et al., 2000); Reported as a variant of uncertain significance by other clinical laboratories in ClinVar (ClinVar Variant ID# 502265; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-frame deletion of 8 amino acids; This variant is associated with the following publications: (PMID: 10942104)

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