ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) (rs752718717)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535241 SCV000631235 uncertain significance CHARGE association 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 317 of the SEMA3E protein (p.Thr317Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs752718717, ExAC 0.01%). This variant has not been reported in the literature in individuals with a SEMA3E-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on SEMA3E function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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