CACNG7 — 33 ClinVar variants
All ClinVar germline CACNG7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Likely pathogenic · 32 Uncertain significance
Full CACNG7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CACNG7 p.Ile262Val
Likely pathogenic
No assertion criteria
intellectual disability
Predictors lean, ClinVar uncertain 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACNG7 p.Ala205Thr Uncertain significance Single submitter
- CACNG7 p.Ala27Val Uncertain significance Single submitter
- CACNG7 p.Ala56Thr Uncertain significance Single submitter
- CACNG7 p.Ala8Pro Uncertain significance Single submitter
- CACNG7 p.Arg127Lys Uncertain significance Single submitter
- CACNG7 p.Arg203Cys Uncertain significance Single submitter
- CACNG7 p.Arg67Gln Uncertain significance Single submitter
- CACNG7 p.Arg67Leu Uncertain significance Single submitter
- CACNG7 p.Arg98His Uncertain significance Single submitter
- CACNG7 p.Asp266Gly Uncertain significance Single submitter
- CACNG7 p.Gln233Arg Uncertain significance Single submitter
- CACNG7 p.Glu49Asp Uncertain significance Single submitter
- CACNG7 p.Glu82Lys Uncertain significance Single submitter
- CACNG7 p.Ile26Met Uncertain significance Single submitter
- CACNG7 p.Leu110Phe Uncertain significance Single submitter
- CACNG7 p.Leu58Ile Uncertain significance Single submitter
- CACNG7 p.Met209Thr Uncertain significance Single submitter
- CACNG7 p.Met36Val Uncertain significance Single submitter
- CACNG7 p.Pro214Ala Uncertain significance Single submitter
- CACNG7 p.Pro81Leu Uncertain significance Single submitter
- CACNG7 p.Ser118Arg Uncertain significance Single submitter
- CACNG7 p.Thr113Met Uncertain significance Single submitter
- CACNG7 p.Tyr210Cys Uncertain significance Single submitter
- CACNG7 p.Val250Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CACNG7 p.Arg67Trp Uncertain significance Single submitter
- CACNG7 p.Arg71Leu Uncertain significance Single submitter
- CACNG7 p.Leu34Val Uncertain significance Single submitter
- CACNG7 p.Phe112Leu Uncertain significance Single submitter
- CACNG7 p.Phe137Leu Uncertain significance Single submitter
- CACNG7 p.Ser118Asn Uncertain significance Single submitter
- CACNG7 p.Ser242Arg Uncertain significance Single submitter
- CACNG7 p.Thr128Ile Uncertain significance Single submitter
All CACNG7 variants
Likely pathogenic 1
- p.Ile262Val No assertion criteria intellectual disability ⚠
Uncertain significance 32
- p.Ala205Thr Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Ala8Pro Single submitter ⚠
- p.Arg127Lys Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg67Gln Single submitter ⚠
- p.Arg67Leu Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Arg71Leu Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asp266Gly Single submitter ⚠
- p.Gln233Arg Single submitter ⚠
- p.Glu49Asp Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Ile26Met Single submitter ⚠
- p.Leu110Phe Single submitter ⚠
- p.Leu34Val Single submitter ⚠
- p.Leu58Ile Single submitter ⚠
- p.Met209Thr Single submitter ⚠
- p.Met36Val Single submitter ⚠
- p.Phe112Leu Single submitter ⚠
- p.Phe137Leu Single submitter ⚠
- p.Pro214Ala Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser118Arg Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser242Arg Single submitter ⚠
- p.Thr113Met Single submitter ⚠
- p.Thr128Ile Single submitter ⚠
- p.Tyr210Cys Single submitter ⚠
- p.Val250Leu Single submitter ⚠