NDUFA7 — 24 ClinVar variants
All ClinVar germline NDUFA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Pathogenic · 23 Uncertain significance
Full NDUFA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFA7 p.Ala94Val Uncertain significance Single submitter
- NDUFA7 p.Arg103Gly Uncertain significance Single submitter
- NDUFA7 p.Arg60His Uncertain significance Single submitter
- NDUFA7 p.Glu30Asp Uncertain significance Single submitter
- NDUFA7 p.Gly44Ser Uncertain significance Single submitter
- NDUFA7 p.Gly59Asp Uncertain significance Single submitter
- NDUFA7 p.Ile8Val Uncertain significance Single submitter
- NDUFA7 p.Leu113Val Uncertain significance Single submitter
- NDUFA7 p.Leu11Pro Uncertain significance Single submitter
- NDUFA7 p.Lys40Arg Uncertain significance Single submitter
- NDUFA7 p.Pro42His Uncertain significance Single submitter
- NDUFA7 p.Ser108Leu Uncertain significance Single submitter
- NDUFA7 p.Val64Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- NDUFA7 p.Ala2Val Uncertain significance Single submitter
- NDUFA7 p.Asp109Ala Uncertain significance Single submitter
- NDUFA7 p.Asp58Asn Uncertain significance Single submitter
- NDUFA7 p.Cys55Tyr Uncertain significance Single submitter
- NDUFA7 p.Ile68Phe Uncertain significance Single submitter
- NDUFA7 p.Pro37Ala Uncertain significance Single submitter
- NDUFA7 p.Ser3Phe Uncertain significance Single submitter
- NDUFA7 p.Ser72Leu Uncertain significance Single submitter
- NDUFA7 p.Tyr53Cys Uncertain significance Single submitter
All NDUFA7 variants
Pathogenic 1
- c.51+1dup Single submitter NDUFA7-associated disorder
Uncertain significance 23
- p.Ala2Val Single submitter ⚠
- p.Ala94Val Single submitter ⚠
- p.Arg103Gly Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Asp109Ala Single submitter ⚠
- p.Asp58Asn Single submitter ⚠
- p.Cys55Gly Single submitter
- p.Cys55Tyr Single submitter ⚠
- p.Glu30Asp Single submitter ⚠
- p.Gly44Ser Single submitter ⚠
- p.Gly59Asp Single submitter ⚠
- p.Ile68Phe Single submitter ⚠
- p.Ile8Val Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu11Pro Single submitter ⚠
- p.Lys40Arg Single submitter ⚠
- p.Pro37Ala Single submitter ⚠
- p.Pro42His Single submitter ⚠
- p.Ser108Leu Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Ser72Leu Single submitter ⚠
- p.Tyr53Cys Single submitter ⚠
- p.Val64Met Single submitter ⚠