ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1956_1970del (p.648_652GGLGV[1]) (rs782015142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701696 SCV000830508 uncertain significance Supravalvar aortic stenosis 2018-02-05 criteria provided, single submitter clinical testing This variant, c.2142_2156del, results in the deletion of 5 amino acids of the ELN protein (p.Gly715_Val719del), 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 deleted amino acids 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.

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