ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.152G>A (p.Arg51His)

gnomAD frequency: 0.00010  dbSNP: rs202038293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813012 SCV000953345 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 51 of the TPK1 protein (p.Arg51His). This variant is present in population databases (rs202038293, gnomAD 0.01%). 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: 656563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TPK1 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 RCV002537383 SCV003711193 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.152G>A (p.R51H) alteration is located in exon 4 (coding exon 3) of the TPK1 gene. This alteration results from a G to A substitution at nucleotide position 152, causing the arginine (R) at amino acid position 51 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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