ClinVar Miner

Submissions for variant NC_000007.14:g.(?_144623146)_(144682998_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708193 SCV000837303 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2021-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TPK1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-6 of the TPK1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TPK1 are known to be pathogenic (PMID: 22152682, 25458521).

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