ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.565G>T (p.Gly189Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003644328 SCV004458321 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2023-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly189*) in the TPK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TPK1 are known to be pathogenic (PMID: 22152682, 25458521). 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. For these reasons, this variant has been classified as Pathogenic.

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