UTP14C — 108 ClinVar variants

All ClinVar germline UTP14C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →

2 Conflicting · 1 Benign · 6 Likely benign · 99 Uncertain significance

Full UTP14C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 97

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

UTP14C p.Ile170Val Conflicting Single submitter
ALG11-congenital disorder of glycosylation

Predictors lean, ClinVar uncertain 81

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

Predictors split 15

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

All UTP14C variants

Conflicting classifications of pathogenicity 2

p.Ile170Val Single submitter ALG11-congenital disorder of glycosylation ⚠
p.Ser64= Single submitter ALG11-congenital disorder of glycosylation

Benign 1

p.Leu279= Multiple submitters ALG11-congenital disorder of glycosylation

Likely benign 6

c.-487+19C>T Single submitter
p.Arg58Gln Single submitter
p.Ile147Val Single submitter
p.Ile702Val Single submitter
p.Leu465= Single submitter
p.Leu509= Single submitter

Uncertain significance 99

p.Arg58Trp Multiple submitters ALG11-congenital disorder of glycosylation ⚠
p.Val157Gly Multiple submitters ALG11-congenital disorder of glycosylation ⚠
p.Ala173Val Single submitter ⚠
p.Ala240Thr Single submitter ⚠
p.Ala240Val Single submitter ⚠
p.Ala260Ser Single submitter ⚠
p.Ala617Val Single submitter ⚠
p.Arg108Ile Single submitter ⚠
p.Arg223Gln Single submitter ⚠
p.Arg230Trp Single submitter ⚠
p.Arg289Lys Single submitter
p.Arg502Ser Single submitter ⚠
p.Arg543Gln Single submitter ⚠
p.Arg672Cys Single submitter ⚠
p.Arg692Gln Single submitter ⚠
p.Arg759Cys Single submitter ⚠
p.Arg759His Single submitter ⚠
p.Asn287Ile Single submitter ⚠
p.Asn329Ser Single submitter ⚠
p.Asn371Asp Single submitter ⚠
p.Asn435Lys Single submitter ⚠
p.Asn541Thr Single submitter ⚠
p.Asn542Tyr Single submitter ⚠
p.Asp315Glu Single submitter ⚠
p.Asp381Gly Single submitter ⚠
p.Asp589Tyr Single submitter ⚠
p.Asp622Tyr Single submitter ⚠
p.Gln185Arg Single submitter ⚠
p.Gln486His Single submitter ⚠
p.Gln507Glu Single submitter ⚠
p.Gln535Arg Single submitter ⚠
p.Glu217Lys Single submitter ⚠
p.Glu29Asp Single submitter ⚠
p.Glu341Gln Single submitter ⚠
p.Glu346Asp Single submitter ⚠
p.Glu353Gly Single submitter ⚠
p.Glu421Gln Single submitter ⚠
p.Glu453Lys Single submitter ⚠
p.Glu514Asp Single submitter ⚠
p.Glu514Gln Single submitter ⚠
p.Glu613Lys Single submitter ⚠
p.Glu632Lys Single submitter ⚠
p.Gly176Arg Single submitter ⚠
p.His222Asp Single submitter ⚠
p.His358Gln Single submitter ⚠
p.His358Tyr Single submitter ⚠
p.Ile187Val Single submitter ⚠
p.Ile285Leu Single submitter ⚠
p.Ile310Val Single submitter ⚠
p.Ile49Val Single submitter ⚠
p.Ile578Met Single submitter ⚠
p.Ile579Met Single submitter ⚠
p.Ile594Thr Single submitter ALG11-congenital disorder of glycosylation ⚠
p.Ile650Val Single submitter ⚠
p.Ile668Val Single submitter ⚠
p.Leu12Phe Single submitter ⚠
p.Leu156Pro Single submitter ⚠
p.Leu326Phe Single submitter ⚠
p.Leu326Ser Single submitter ⚠
p.Leu608Val Single submitter ⚠
p.Leu627Pro Single submitter ⚠
p.Lys306Glu Single submitter
p.Lys41Glu Single submitter ⚠
p.Lys714Glu Single submitter ⚠
p.Met214Ile Single submitter ⚠
p.Met311Thr Single submitter ⚠
p.Met374Ile Single submitter ⚠
p.Phe694Leu Single submitter ⚠
p.Pro159Ala Single submitter ⚠
p.Pro22Gln Single submitter ⚠
p.Pro26Leu Single submitter ⚠
p.Pro370Arg Single submitter ⚠
p.Pro370Leu Single submitter ⚠
p.Pro440Ala Single submitter ⚠
p.Pro490Thr Single submitter ⚠
p.Pro497Leu Single submitter ⚠
p.Pro529Ser Single submitter ⚠
p.Pro568Ser Single submitter ⚠
p.Pro576Ser Single submitter ⚠
p.Pro657Leu Single submitter ⚠
p.Ser342Asn Single submitter ⚠
p.Ser380Asn Single submitter ⚠
p.Ser432Tyr Single submitter ⚠
p.Ser456Ala Single submitter ⚠
p.Ser462Pro Single submitter ⚠
p.Ser572Pro Single submitter ⚠
p.Thr181Ile Single submitter ⚠
p.Thr349Ile Single submitter ⚠
p.Thr382Pro Single submitter ⚠
p.Thr689Ile Single submitter ⚠
p.Trp143Cys Single submitter ⚠
p.Tyr235Cys Single submitter ⚠
p.Tyr235His Single submitter ⚠
p.Tyr251Cys Single submitter ⚠
p.Val255Met Single submitter ⚠
p.Val338Ile Single submitter ⚠
p.Val338Leu Single submitter ⚠
p.Val506Glu Single submitter ⚠
p.Tyr738Ter No assertion criteria