ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.223A>G (p.Ile75Val)

dbSNP: rs960990842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227200 SCV001399546 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2020-10-20 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 isoleucine with valine at codon 75 of the TPK1 protein (p.Ile75Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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