ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.243del (p.Glu81fs)

dbSNP: rs2150697552
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001389581 SCV001590976 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2020-09-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TPK1 are known to be pathogenic (PMID: 22152682, 25458521). This sequence change creates a premature translational stop signal (p.Glu81Aspfs*32) in the TPK1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TPK1-related conditions.

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