ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.107A>T (p.Glu36Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820639 SCV000961359 uncertain significance Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 2018-08-04 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 36 of the TRNT1 protein (p.Glu36Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs138682354, ExAC 0.02%). This variant has not been reported in the literature in individuals with TRNT1-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, 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000997966 SCV001153748 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing

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