ClinVar Miner

Submissions for variant NC_000007.13:g.(?_144245564)_(144463064_?)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 RCV003111485 SCV003791905 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the TPK1 protein in which other variant(s) (p.Leu142Phe) have been determined to be pathogenic (PMID: 31288420, 31404531; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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) 3-8 of the TPK1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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