ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237758 SCV001410532 uncertain significance Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 2019-09-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 416 of the TRNT1 protein (p.Lys416Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs199931785, ExAC 0.008%). This variant has been observed in several individuals affected with congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (PMID: 25193871, 29358286). This variant has been reported not to substantially affect TRNT1 protein function (PMID: 25193871). 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.
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249658 SCV001423622 likely pathogenic Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis 2018-10-31 criteria provided, single submitter clinical testing [ACMG/AMP: PM2, PM3, PM_PS3] This alteration is absent from or rarely observed in large-scale population databases [PM2], is detected in trans with a known pathogenic variant [PM3].

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