ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.944A>G (p.Lys315Arg) (rs1554676454)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000627826 SCV000748706 pathogenic Supravalvar aortic stenosis 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 315 of the ELN protein (p.Lys315Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with a ELN-related disease (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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