TMEM14C — 20 ClinVar variants
All ClinVar germline TMEM14C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
2 Likely benign · 18 Uncertain significance
Full TMEM14C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMEM14C p.Ala93Ser Uncertain significance Single submitter
- TMEM14C p.His112Arg Uncertain significance Single submitter
- TMEM14C p.Leu50Val Uncertain significance Single submitter
- TMEM14C p.Lys31Arg Uncertain significance Single submitter
- TMEM14C p.Lys31Thr Uncertain significance Single submitter
- TMEM14C p.Met76Thr Uncertain significance Single submitter
- TMEM14C p.Met78Val Uncertain significance Single submitter
- TMEM14C p.Pro9Ser Uncertain significance Single submitter
- TMEM14C p.Ser106Asn Uncertain significance Single submitter
- TMEM14C p.Ser106Ile Uncertain significance Single submitter
- TMEM14C p.Val30Ile Uncertain significance Single submitter
- TMEM14C p.Val7Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All TMEM14C variants
Likely benign 2
- p.Val100Ala Single submitter
- p.Val62Ile Single submitter
Uncertain significance 18
- p.Ala32Thr Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.His112Arg Single submitter ⚠
- p.Leu50Val Single submitter ⚠
- p.Lys31Arg Single submitter ⚠
- p.Lys31Thr Single submitter ⚠
- p.Met76Thr Single submitter ⚠
- p.Met78Val Single submitter ⚠
- p.Met87Ile Single submitter ⚠
- p.Phe86Leu Single submitter ⚠
- p.Pro36Gln Single submitter ⚠
- p.Pro9Ser Single submitter ⚠
- p.Ser106Asn Single submitter ⚠
- p.Ser106Ile Single submitter ⚠
- p.Ser56Tyr Single submitter ⚠
- p.Tyr53His Single submitter
- p.Val30Ile Single submitter ⚠
- p.Val7Ile Single submitter ⚠