ClinVar Miner

Submissions for variant NC_000007.13:g.(?_144150618)_(144532715_?)del

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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 RCV001386267 SCV001586429 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2020-01-29 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TPK1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with TPK1-related conditions. Loss-of-function variants in TPK1 are known to be pathogenic (PMID: 22152682, 25458521). For these reasons, this variant has been classified as Pathogenic.

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