ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.355-2A>G

dbSNP: rs2150829457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004765416 SCV005375233 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2024-10-13 criteria provided, single submitter clinical testing This variant (GRCh38; NM_022445.4:c.355-2A>G) results in a Splice Acceptor site mutation in the TPK1 gene. To our knowledge this variant not been previously curated or reported in public Database. Not observed at significant frequency in large population cohorts (gnomAD) This variant has a strong Conservation score. In-silico analysis supports that this splice acceptor site variant is pathogenic. This alteration is interpreted as disease-causing mutation, a commonly known mechanism for disease.

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