ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.566G>A (p.Gly189Glu)

gnomAD frequency: 0.00001  dbSNP: rs2063720083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036676 SCV001200052 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2019-03-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TPK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 189 of the TPK1 protein (p.Gly189Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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