ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.337G>A (p.Glu113Lys)

dbSNP: rs1563779902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699724 SCV000828447 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 113 of the TPK1 protein (p.Glu113Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TPK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 577063). 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 lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002533568 SCV003542399 uncertain significance Inborn genetic diseases 2022-05-26 criteria provided, single submitter clinical testing The c.337G>A (p.E113K) alteration is located in exon 6 (coding exon 5) of the TPK1 gene. This alteration results from a G to A substitution at nucleotide position 337, causing the glutamic acid (E) at amino acid position 113 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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