TKFC — 133 ClinVar variants

All ClinVar germline TKFC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →

2 Likely pathogenic · 8 Benign · 16 Likely benign · 107 Uncertain significance

Full TKFC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 103

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 73

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 30

The independent predictors disagree with each other — read with care.

All TKFC variants

Likely pathogenic 2

p.Arg543Ile Multiple submitters triokinase and FMN cyclase deficiency syndrome
p.Gly445Ser Single submitter TKFC deficiency

Benign 8

c.194-13C>T Multiple submitters triokinase and FMN cyclase deficiency syndrome
c.775+39A>C Multiple submitters triokinase and FMN cyclase deficiency syndrome
p.Ala185Thr Multiple submitters triokinase and FMN cyclase deficiency syndrome
p.Thr157= Multiple submitters triokinase and FMN cyclase deficiency syndrome
p.Val437= Multiple submitters triokinase and FMN cyclase deficiency syndrome
p.Ala334Gly Single submitter
p.Gly192= Single submitter
p.Pro131= Single submitter

Likely benign 16

c.1348-5C>T Single submitter
c.305-14G>T Single submitter
c.305-16C>T Single submitter
c.866-8T>C Single submitter
p.Ala178Thr Single submitter
p.Ala23= Single submitter
p.Ala281= Single submitter
p.Ala375Val Single submitter
p.Ala481= Single submitter
p.Ala559= Single submitter
p.Ala99= Single submitter
p.Arg115= Single submitter
p.Arg115Gln Single submitter ⚠
p.Ile67Thr Single submitter
p.Pro461= Single submitter
p.Arg567Trp No assertion criteria TKFC-related disorder ⚠

Uncertain significance 107

p.Arg228Gln Multiple submitters triokinase and FMN cyclase deficiency syndrome ⚠
p.Asp403Asn Multiple submitters triokinase and FMN cyclase deficiency syndrome ⚠
p.Gln257Pro Multiple submitters ⚠
c.1102+7A>G Single submitter
p.Ala411Glu Single submitter ⚠
p.Ala449Val Single submitter ⚠
p.Ala458Gly Single submitter ⚠
p.Ala470Val Single submitter ⚠
p.Ala502Val Single submitter ⚠
p.Ala559Val Single submitter ⚠
p.Arg115Trp Single submitter ⚠
p.Arg122Gln Single submitter ⚠
p.Arg122Leu Single submitter ⚠
p.Arg122Trp Single submitter ⚠
p.Arg126Gln Single submitter ⚠
p.Arg151Gln Single submitter ⚠
p.Arg151Trp Single submitter ⚠
p.Arg152Gln Single submitter ⚠
p.Arg152Pro Single submitter ⚠
p.Arg152Trp Single submitter ⚠
p.Arg227Cys Single submitter ⚠
p.Arg227His Single submitter ⚠
p.Arg286Cys Single submitter triokinase and FMN cyclase deficiency syndrome ⚠
p.Arg286His Single submitter ⚠
p.Arg297Cys Single submitter ⚠
p.Arg297His Single submitter
p.Arg297Leu Single submitter ⚠
p.Arg349Gln Single submitter ⚠
p.Arg351Gln Single submitter ⚠
p.Arg35Cys Single submitter ⚠
p.Arg35Leu Single submitter ⚠
p.Arg380Gln Single submitter ⚠
p.Arg397Gln Single submitter ⚠
p.Arg410Leu Single submitter ⚠
p.Arg493Gly Single submitter ⚠
p.Arg551Gln Single submitter ⚠
p.Arg551Leu Single submitter ⚠
p.Asn247Thr Single submitter ⚠
p.Asp114Asn Single submitter ⚠
p.Asp15Asn Single submitter ⚠
p.Asp235Asn Single submitter ⚠
p.Asp243Asn Single submitter ⚠
p.Asp282Asn Single submitter ⚠
p.Asp43fs Single submitter triokinase and FMN cyclase deficiency syndrome
p.Cys404Ser Single submitter ⚠
p.Glu133Gly Single submitter ⚠
p.Glu176Asp Single submitter ⚠
p.Glu208Lys Single submitter ⚠
p.Glu213Val Single submitter
p.Glu321Lys Single submitter ⚠
p.Glu441Lys Single submitter ⚠
p.Glu528Lys Single submitter ⚠
p.Glu532Gly Single submitter ⚠
p.Glu532Lys Single submitter ⚠
p.Gly156Ser Single submitter ⚠
p.Gly165Asp Single submitter ⚠
p.Gly222Arg Single submitter ⚠
p.Gly290fs Single submitter Sengers syndrome
p.Gly292Arg Single submitter ⚠
p.Gly346Arg Single submitter ⚠
p.Gly478Ser Single submitter ⚠
p.Gly491Glu Single submitter ⚠
p.Gly513Val Single submitter ⚠
p.Gly558Arg Single submitter ⚠
p.Gly55Glu Single submitter ⚠
p.Gly56Val Single submitter ⚠
p.Gly65Asp Single submitter ⚠
p.His63Arg Single submitter ⚠
p.Ile107Leu Single submitter ⚠
p.Ile220Phe Single submitter ⚠
p.Leu106Arg Single submitter ⚠
p.Leu159Phe Single submitter ⚠
p.Leu191Met Single submitter ⚠
p.Leu277Pro Single submitter ⚠
p.Leu314Val Single submitter ⚠
p.Leu439Ile Single submitter ⚠
p.Leu516Arg Single submitter ⚠
p.Leu516Val Single submitter ⚠
p.Lys109Asn Single submitter ⚠
p.Lys348Gln Single submitter ⚠
p.Lys535Arg Single submitter ⚠
p.Lys69Glu Single submitter ⚠
p.Met245Ile Single submitter ⚠
p.Met265Lys Single submitter ⚠
p.Met304Ile Single submitter ⚠
p.Met309Thr Single submitter ⚠
p.Met443Thr Single submitter ⚠
p.Pro423Leu Single submitter ⚠
p.Pro424His Single submitter ⚠
p.Pro425Ser Single submitter ⚠
p.Pro84Leu Single submitter ⚠
p.Ser363Tyr Single submitter ⚠
p.Ser371Leu Single submitter ⚠
p.Ser548Asn Single submitter ⚠
p.Thr104Met Single submitter ⚠
p.Thr233Ala Single submitter ⚠
p.Thr249Ala Single submitter ⚠
p.Thr345Ile Single submitter ⚠
p.Thr384Ala Single submitter ⚠
p.Val108Met Single submitter ⚠
p.Val158Leu Single submitter ⚠
p.Val200Ile Single submitter triokinase and FMN cyclase deficiency syndrome ⚠
p.Val256Gly Single submitter
p.Val256Leu Single submitter ⚠
p.Val36Met Single submitter ⚠
p.Val437Phe Single submitter ⚠
p.Val560Leu Single submitter ⚠