ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.701C>A (p.Pro234Gln)

dbSNP: rs749295013
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047974 SCV001211961 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2019-12-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs749295013, ExAC 0.004%). This sequence change replaces proline with glutamine at codon 234 of the TPK1 protein (p.Pro234Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. This variant has not been reported in the literature in individuals with TPK1-related conditions. 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").
GeneDx RCV003160370 SCV003915353 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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