ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.92A>G (p.Tyr31Cys)

dbSNP: rs531486319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302475 SCV001491686 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2020-05-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TPK1-related conditions. This variant is present in population databases (rs531486319, ExAC 0.009%). This sequence change replaces tyrosine with cysteine at codon 31 of the TPK1 protein (p.Tyr31Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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