ClinVar Miner

Submissions for variant NM_022445.4(TPK1):c.664G>C (p.Asp222His)

dbSNP: rs368458768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479810 SCV000566904 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing Published functional studies found p.(D222H) is associated with significantly reduced enzyme activity and protein expression (Banka et al., 2014; Huang et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30483896, 25458521, 29269382)
Breda Genetics srl RCV001078175 SCV001190339 pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2020-03-11 criteria provided, single submitter clinical testing There is no information on frequency of this variant in gnomAD, 1000 Genomes or NHLI Exome Sequencing Project (ESP). The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.61). This variant has been identified by Banka et al. (2014), in the homozygous state, in a patient with a non-episodic Leigh-like syndrome, with early developmental global developmental delay (PMID: 25458521). ClinVar contains an entry for this variant (Variation ID: 419232).
Fulgent Genetics, Fulgent Genetics RCV001078175 SCV002812177 likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 2022-01-17 criteria provided, single submitter clinical testing

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