ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.491T>C (p.Leu164Pro)

gnomAD frequency: 0.00010  dbSNP: rs374946048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817034 SCV000957570 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 164 of the TPK1 protein (p.Leu164Pro). This variant is present in population databases (rs374946048, gnomAD 0.2%). 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: 659939). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV000817034 SCV002814581 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2021-09-01 criteria provided, single submitter clinical testing

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