ClinVar Miner

Submissions for variant NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)

gnomAD frequency: 0.00001  dbSNP: rs547013163
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Omics Lab at Great Ormond Street Institute of Child Health, University College London RCV001030070 SCV001134944 likely pathogenic TKFC deficiency; Inborn errors of metabolism 2020-01-02 criteria provided, single submitter clinical testing This NM_015533.3, c.1628G>T; p.Arg543Ile was observed in two affected individuals in one family as a homozygous variant. This variant affects a highly conserved residue and is present at very low frequency in large population databases, but not observed as a homozygous variant. It is predicted damaging by multiple in silico programs, and functional assays supports its deleterious effect on protein function (this p.Arg543Ile mutant human protein abolishes protein activity of TKFC in both E.coli and Yeast assays, and reduced protein content in patient skin fibroblasts). This variant meets the classification criteria of likely pathogenic: absent from controls, highly conserved, segregates with the phenotype, supportive functional assays.
OMIM RCV001007642 SCV001167328 pathogenic Triokinase and FMN cyclase deficiency syndrome 2020-10-20 no assertion criteria provided literature only

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