ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.913G>A (p.Ala305Thr)

dbSNP: rs1060503513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471813 SCV000553218 uncertain significance Supravalvar aortic stenosis 2016-05-07 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an ELN-related disease. This sequence change replaces alanine with threonine at codon 305 of the ELN protein (p.Ala305Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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