ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) (rs973649598)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627830 SCV000748710 uncertain significance Supravalvar aortic stenosis 2017-11-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 380 of the ELN protein (p.Ala380Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ELN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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