STARD7 — 54 ClinVar variants
All ClinVar germline STARD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Pathogenic · 7 Likely benign · 46 Uncertain significance
Full STARD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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STARD7 p.Arg140Cys
Uncertain significance
Multiple submitters
epilepsy, familial adult myoclonic, 2
-
STARD7 p.Asn181Ser
Uncertain significance
Multiple submitters
epilepsy, familial adult myoclonic, 2
-
STARD7 p.Pro121Ser
Uncertain significance
Multiple submitters
epilepsy, familial adult myoclonic, 2
- STARD7 p.Ala78Val Uncertain significance Single submitter
- STARD7 p.Arg233Trp Uncertain significance Single submitter
- STARD7 p.Arg68Gly Uncertain significance Single submitter
- STARD7 p.Asn100Ser Uncertain significance Single submitter
- STARD7 p.Asn110Asp Uncertain significance Single submitter
- STARD7 p.Asp280Val Uncertain significance Single submitter
- STARD7 p.Asp313His Uncertain significance Single submitter
- STARD7 p.Glu138Gly Uncertain significance Single submitter
- STARD7 p.Glu200Gln Uncertain significance Single submitter
- STARD7 p.Glu87Lys Uncertain significance Single submitter
- STARD7 p.Gly360Ser Uncertain significance Single submitter
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STARD7 p.Gly59Cys
Uncertain significance
Single submitter
epilepsy, familial adult myoclonic, 2
- STARD7 p.Ile157Val Uncertain significance Single submitter
- STARD7 p.Leu105Val Uncertain significance Single submitter
- STARD7 p.Lys137Arg Uncertain significance Single submitter
- STARD7 p.Lys190Arg Uncertain significance Single submitter
- STARD7 p.Met111Thr Uncertain significance Single submitter
- STARD7 p.Met143Ile Uncertain significance Single submitter
- STARD7 p.Met271Ile Uncertain significance Single submitter
- STARD7 p.Met320Val Uncertain significance Single submitter
- STARD7 p.Pro222Leu Uncertain significance Single submitter
- STARD7 p.Ser235Gly Uncertain significance Single submitter
- STARD7 p.Ser247Leu Uncertain significance Single submitter
- STARD7 p.Thr170Ala Uncertain significance Single submitter
- STARD7 p.Thr296Met Uncertain significance Single submitter
- STARD7 p.Trp305Arg Uncertain significance Single submitter
- STARD7 p.Val144Met Uncertain significance Single submitter
- STARD7 p.Val262Ile Uncertain significance Single submitter
- STARD7 p.Ala349Ser Uncertain significance No assertion criteria
Predictors split 11
The independent predictors disagree with each other — read with care.
- STARD7 p.Arg155His Uncertain significance Single submitter
- STARD7 p.Arg274Cys Uncertain significance Single submitter
- STARD7 p.Arg274His Uncertain significance Single submitter
- STARD7 p.Asp86His Uncertain significance Single submitter
- STARD7 p.His276Arg Uncertain significance Single submitter
- STARD7 p.Leu323Gln Uncertain significance Single submitter
- STARD7 p.Lys151Asn Uncertain significance Single submitter
- STARD7 p.Lys198Asn Uncertain significance Single submitter
- STARD7 p.Met223Val Uncertain significance Single submitter
- STARD7 p.Met243Ile Uncertain significance Single submitter
- STARD7 p.Ser208Cys Uncertain significance Single submitter
All STARD7 variants
Pathogenic 1
- c.291-1572_291-1518ATTTT[376]ATTTC[274] No assertion criteria epilepsy, familial adult myoclonic, 2
Likely benign 7
- c.290+15G>T Single submitter
- c.929-13C>T Single submitter
- p.Arg366Gln Single submitter
- p.Glu94= Single submitter
- p.Met343Val Single submitter
- p.Pro69Leu Single submitter
- p.Val272= Single submitter
Uncertain significance 46
- p.Arg140Cys Multiple submitters epilepsy, familial adult myoclonic, 2 ⚠
- p.Arg300His Multiple submitters epilepsy, familial adult myoclonic, 2
- p.Asn181Ser Multiple submitters epilepsy, familial adult myoclonic, 2 ⚠
- p.Pro121Ser Multiple submitters epilepsy, familial adult myoclonic, 2 ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg155His Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg274Cys Single submitter ⚠
- p.Arg274His Single submitter ⚠
- p.Arg68Gly Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asn110Asp Single submitter ⚠
- p.Asp280Val Single submitter ⚠
- p.Asp313His Single submitter ⚠
- p.Asp86His Single submitter ⚠
- p.Glu138Gly Single submitter ⚠
- p.Glu200Gln Single submitter ⚠
- p.Glu359Ter Single submitter
- p.Glu87Lys Single submitter ⚠
- p.Gly360Ser Single submitter ⚠
- p.Gly59Cys Single submitter epilepsy, familial adult myoclonic, 2 ⚠
- p.His276Arg Single submitter ⚠
- p.Ile157Val Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Leu323Gln Single submitter ⚠
- p.Lys137Arg Single submitter ⚠
- p.Lys151Asn Single submitter ⚠
- p.Lys190Arg Single submitter ⚠
- p.Lys198Asn Single submitter ⚠
- p.Met111Thr Single submitter ⚠
- p.Met143Ile Single submitter ⚠
- p.Met223Val Single submitter ⚠
- p.Met243Ile Single submitter ⚠
- p.Met271Ile Single submitter ⚠
- p.Met320Val Single submitter ⚠
- p.Pro222Leu Single submitter ⚠
- p.Ser208Cys Single submitter ⚠
- p.Ser235Gly Single submitter ⚠
- p.Ser247Leu Single submitter ⚠
- p.Thr170Ala Single submitter ⚠
- p.Thr296Met Single submitter ⚠
- p.Trp305Arg Single submitter ⚠
- p.Val144Met Single submitter ⚠
- p.Val262Ile Single submitter ⚠
- p.Ala349Ser No assertion criteria ⚠
- p.Ser266fs No assertion criteria STARD7-related disorder