ClinVar Miner

Submissions for variant NC_000007.13:g.(?_144532633)_(144532695_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003111488 SCV003791908 uncertain significance Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-04-19 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 2 of the TPK1 gene. This region includes the initiator codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with TPK1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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