CAV1 — 186 ClinVar variants
All ClinVar germline CAV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
8 Pathogenic · 3 Likely pathogenic · 7 Conflicting · 9 Benign · 10 Benign/Likely benign · 75 Likely benign · 74 Uncertain significance
Full CAV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CAV1 p.Ala120Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CAV1 p.Ile150Val
Conflicting
Single submitter
Inborn genetic diseases
-
CAV1 p.Ile18Met
Conflicting
Single submitter
Inborn genetic diseases
-
CAV1 p.Phe167Ser
Conflicting
Single submitter
monogenic diabetes
-
CAV1 p.Val155Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CAV1 p.Arg101His
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 3
-
CAV1 p.His79Arg
Uncertain significance
Multiple submitters
partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
-
CAV1 p.Lys86Arg
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 3
-
CAV1 p.Phe68Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAV1 p.Pro132Ala
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 3
-
CAV1 p.Ser136Asn
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 3
-
CAV1 p.Ser80Gly
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 3
-
CAV1 p.Thr95Met
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 3
-
CAV1 p.Val152Ile
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 3
-
CAV1 p.Arg101Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Arg146Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Arg54His
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Asn53Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asn60Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asn60Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asp61Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asp61Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asp67Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asp70Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Cys156Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Gln175His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Glu10Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Glu20Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Gly108Asp
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Gly77Arg
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.His79Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Ile109Asn
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Ile144Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Leu138Pro
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Leu159Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Leu174Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Lys135Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Lys135Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Pro17Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Ser149Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Ser9Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Thr15Ala
Uncertain significance
Single submitter
monogenic diabetes
- CAV1 p.Trp115Cys Uncertain significance Single submitter
-
CAV1 p.Tyr14His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Val163Leu
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Val71Met
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
- CAV1 p.Pro110Leu Uncertain significance No assertion criteria
Predictors split 22
The independent predictors disagree with each other — read with care.
-
CAV1 p.Arg146His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CAV1 p.Arg171His
Uncertain significance
Multiple submitters
pulmonary hypertension, primary, 3
-
CAV1 p.Gly83Ser
Uncertain significance
Multiple submitters
congenital generalized lipodystrophy type 3
-
CAV1 p.Arg171Cys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Arg19Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Asn29Lys
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Glu140Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.His153Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Ile114Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Leu174Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Leu36Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Lys57Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Lys65Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Met32Ile
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Ser168Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Ser88Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Thr154Ile
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Thr154Ser
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Tyr118His
Uncertain significance
Single submitter
pulmonary hypertension, primary, 3
-
CAV1 p.Tyr148Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Val63Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CAV1 p.Val64Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All CAV1 variants
Pathogenic 8
- p.Glu38Ter Single submitter partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
- p.Ile134fs Single submitter pulmonary hypertension, primary, 3
- p.Leu159_Phe160insTer Single submitter Inborn genetic diseases
- p.Leu159fs Single submitter CAV1-related disorder
- p.Ser123fs Single submitter partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
- p.Gln142Ter No assertion criteria congenital generalized lipodystrophy type 3
- p.His79fs No assertion criteria congenital generalized lipodystrophy type 3
- p.Pro158fs No assertion criteria pulmonary hypertension, primary, 3
Likely pathogenic 3
- p.Arg146fs Single submitter partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
- p.Cys133fs Single submitter CAV1-related disorder
- p.Ile150fs Single submitter pulmonary hypertension, primary, 3
Conflicting classifications of pathogenicity 7
- p.Ala120Thr Single submitter Inborn genetic diseases ⚠
- p.Glu10Ter Single submitter Inborn genetic diseases
- p.Ile150Val Single submitter Inborn genetic diseases ⚠
- p.Ile18Met Single submitter Inborn genetic diseases ⚠
- p.Phe167Ser Single submitter monogenic diabetes ⚠
- p.Val155Ile Single submitter Inborn genetic diseases ⚠
- p.Val63= Single submitter pulmonary hypertension, primary, 3
Benign 9
- c.30+14G>T Multiple submitters pulmonary hypertension, primary, 3
- c.30+19dup Multiple submitters pulmonary hypertension, primary, 3
- c.30+87C>T Multiple submitters
- c.31-179C>T Multiple submitters
- c.196-172A>G Single submitter
- c.30+13G>T Single submitter pulmonary hypertension, primary, 3
- c.31-448_31-443dup Single submitter
- c.31-505G>A Single submitter
- c.*327dup Single submitter
Benign/Likely benign 10
- c.30+13G>C Multiple submitters pulmonary hypertension, primary, 3
- c.30+16G>A Multiple submitters pulmonary hypertension, primary, 3
- c.30+19del Multiple submitters pulmonary hypertension, primary, 3
- c.30+20C>T Multiple submitters pulmonary hypertension, primary, 3
- c.30+214A>C Multiple submitters pulmonary hypertension, primary, 3
- c.30+317T>C Multiple submitters
- p.Asp43= Multiple submitters Inborn genetic diseases
- p.Asp82= Multiple submitters pulmonary hypertension, primary, 3
- p.Gly116= Multiple submitters Inborn genetic diseases
- p.Val52= Multiple submitters pulmonary hypertension, primary, 3
Likely benign 75
- c.30+13G>A Multiple submitters pulmonary hypertension, primary, 3
- c.30+28C>T Multiple submitters
- c.31-255del Multiple submitters Inborn genetic diseases
- p.Arg146Pro Multiple submitters partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
- p.Asn169= Multiple submitters Inborn genetic diseases
- p.Asp61= Multiple submitters Inborn genetic diseases
- p.Gln142= Multiple submitters pulmonary hypertension, primary, 3
- p.Gln175= Multiple submitters Inborn genetic diseases
- p.His58= Multiple submitters Inborn genetic diseases
- p.Ile178Lys Multiple submitters Inborn genetic diseases
- p.Ile49= Multiple submitters pulmonary hypertension, primary, 3
- p.Phe119= Multiple submitters Inborn genetic diseases
- p.Pro110= Multiple submitters pulmonary hypertension, primary, 3
- p.Thr15= Multiple submitters congenital generalized lipodystrophy type 3
- p.Tyr118= Multiple submitters pulmonary hypertension, primary, 3
- p.Tyr151= Multiple submitters Inborn genetic diseases
- p.Val64= Multiple submitters Inborn genetic diseases
- c.195+116CA[8] Single submitter
- c.195+18A>T Single submitter
- c.195+7C>T Single submitter pulmonary hypertension, primary, 3
- c.195+8A>G Single submitter pulmonary hypertension, primary, 3
- c.196-152A>G Single submitter
- c.196-306C>A Single submitter
- c.196-6T>C Single submitter pulmonary hypertension, primary, 3
- c.30+11G>T Single submitter pulmonary hypertension, primary, 3
- c.30+15G>C Single submitter pulmonary hypertension, primary, 3
- c.30+15G>T Single submitter pulmonary hypertension, primary, 3
- c.30+17G>A Single submitter pulmonary hypertension, primary, 3
- c.30+17G>C Single submitter pulmonary hypertension, primary, 3
- c.30+19G>A Single submitter pulmonary hypertension, primary, 3
- c.31-18G>A Single submitter pulmonary hypertension, primary, 3
- c.31-207_31-204del Single submitter
- c.31-4G>A Single submitter pulmonary hypertension, primary, 3
- c.-94T>C Single submitter
- c.*341del Single submitter
- p.Ala129= Single submitter Inborn genetic diseases
- p.Ala31= Single submitter Inborn genetic diseases
- p.Ala44= Single submitter Inborn genetic diseases
- p.Ala73= Single submitter pulmonary hypertension, primary, 3
- p.Ala87= Single submitter Inborn genetic diseases
- p.Arg101= Single submitter Inborn genetic diseases
- p.Arg19= Single submitter pulmonary hypertension, primary, 3
- p.Asn53= Single submitter Inborn genetic diseases
- p.Asp34Glu Single submitter Inborn genetic diseases
- p.Glu161= Single submitter Inborn genetic diseases
- p.Glu20= Single submitter Inborn genetic diseases
- p.Glu74= Single submitter Inborn genetic diseases
- p.Gly164= Single submitter Inborn genetic diseases
- p.Gly22= Single submitter pulmonary hypertension, primary, 3
- p.Gly3= Single submitter Inborn genetic diseases
- p.Gly4= Single submitter pulmonary hypertension, primary, 3
- p.His153= Single submitter Inborn genetic diseases
- p.Ile24= Single submitter pulmonary hypertension, primary, 3
- p.Ile84= Single submitter Inborn genetic diseases
- p.Leu106= Single submitter pulmonary hypertension, primary, 3
- p.Leu125= Single submitter
- p.Leu159= Single submitter Inborn genetic diseases
- p.Leu174Met Single submitter Inborn genetic diseases
- p.Leu36Met Single submitter Inborn genetic diseases
- p.Leu59= Single submitter pulmonary hypertension, primary, 3
- p.Lys57= Single submitter Inborn genetic diseases
- p.Lys86= Single submitter pulmonary hypertension, primary, 3
- p.Lys96= Single submitter Inborn genetic diseases
- p.Phe137= Single submitter Inborn genetic diseases
- p.Phe81= Single submitter Inborn genetic diseases
- p.Pro158= Single submitter Inborn genetic diseases
- p.Pro27= Single submitter Inborn genetic diseases
- p.Ser136= Single submitter Inborn genetic diseases
- p.Ser149= Single submitter pulmonary hypertension, primary, 3
- p.Ser37Asn Single submitter Inborn genetic diseases
- p.Ser9= Single submitter Inborn genetic diseases
- p.Thr154= Single submitter Inborn genetic diseases
- p.Thr90= Single submitter Inborn genetic diseases
- p.Thr95= Single submitter Inborn genetic diseases
- p.Val170Ile Single submitter Inborn genetic diseases
Uncertain significance 74
- c.30+3A>G Multiple submitters pulmonary hypertension, primary, 3
- p.Arg101His Multiple submitters congenital generalized lipodystrophy type 3 ⚠
- p.Arg146His Multiple submitters Inborn genetic diseases ⚠
- p.Arg171His Multiple submitters pulmonary hypertension, primary, 3 ⚠
- p.Gly83Ser Multiple submitters congenital generalized lipodystrophy type 3 ⚠
- p.His79Arg Multiple submitters partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome ⚠
- p.Lys86Arg Multiple submitters pulmonary hypertension, primary, 3 ⚠
- p.Phe68Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro132Ala Multiple submitters congenital generalized lipodystrophy type 3 ⚠
- p.Ser136Asn Multiple submitters pulmonary hypertension, primary, 3 ⚠
- p.Ser80Gly Multiple submitters pulmonary hypertension, primary, 3 ⚠
- p.Thr95Met Multiple submitters congenital generalized lipodystrophy type 3 ⚠
- p.Val152Ile Multiple submitters pulmonary hypertension, primary, 3 ⚠
- c.196-6530G>A Single submitter
- c.31-5T>A Single submitter pulmonary hypertension, primary, 3
- p.Arg101Cys Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Arg146Cys Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Arg171Cys Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Arg19Trp Single submitter Inborn genetic diseases ⚠
- p.Arg54His Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Asn29Lys Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Asn53Ser Single submitter Inborn genetic diseases ⚠
- p.Asn60Lys Single submitter Inborn genetic diseases ⚠
- p.Asn60Ser Single submitter Inborn genetic diseases ⚠
- p.Asp61Gly Single submitter Inborn genetic diseases ⚠
- p.Asp61Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp67Val Single submitter Inborn genetic diseases ⚠
- p.Asp70Gly Single submitter Inborn genetic diseases ⚠
- p.Cys156Trp Single submitter Inborn genetic diseases ⚠
- p.Gln175His Single submitter Inborn genetic diseases ⚠
- p.Gln21Ter Single submitter
- p.Glu10Asp Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Glu140Lys Single submitter Inborn genetic diseases ⚠
- p.Glu20Lys Single submitter Inborn genetic diseases ⚠
- p.Gly108Asp Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Gly11Arg Single submitter Inborn genetic diseases
- p.Gly11Ter Single submitter
- p.Gly77Arg Single submitter pulmonary hypertension, primary, 3 ⚠
- p.His153Arg Single submitter Inborn genetic diseases ⚠
- p.His79Asn Single submitter Inborn genetic diseases ⚠
- p.Ile109Asn Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Ile114Thr Single submitter Inborn genetic diseases ⚠
- p.Ile144Asn Single submitter Inborn genetic diseases ⚠
- p.Leu138Pro Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Leu159Val Single submitter Inborn genetic diseases ⚠
- p.Leu174Ser Single submitter Inborn genetic diseases ⚠
- p.Leu174Val Single submitter Inborn genetic diseases ⚠
- p.Leu36Pro Single submitter Inborn genetic diseases ⚠
- p.Lys135Asn Single submitter Inborn genetic diseases ⚠
- p.Lys135Glu Single submitter Inborn genetic diseases ⚠
- p.Lys57Asn Single submitter Inborn genetic diseases
- p.Lys57Glu Single submitter Inborn genetic diseases ⚠
- p.Lys65Thr Single submitter Inborn genetic diseases ⚠
- p.Met111Ile Single submitter Inborn genetic diseases
- p.Met32Ile Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Pro17Arg Single submitter Inborn genetic diseases ⚠
- p.Ser149Phe Single submitter Inborn genetic diseases ⚠
- p.Ser168Gly Single submitter Inborn genetic diseases ⚠
- p.Ser88Asn Single submitter Inborn genetic diseases ⚠
- p.Ser9Ala Single submitter Inborn genetic diseases ⚠
- p.Ter179Gln Single submitter partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
- p.Thr154Ile Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Thr154Ser Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Thr15Ala Single submitter monogenic diabetes ⚠
- p.Trp115Cys Single submitter ⚠
- p.Tyr118His Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Tyr148Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr14His Single submitter Inborn genetic diseases ⚠
- p.Val163Leu Single submitter pulmonary hypertension, primary, 3 ⚠
- p.Val63Leu Single submitter Inborn genetic diseases ⚠
- p.Val64Gly Single submitter Inborn genetic diseases ⚠
- p.Val71Met Single submitter pulmonary hypertension, primary, 3 ⚠
- c.-88delC No assertion criteria CAV1-related disorder
- p.Pro110Leu No assertion criteria ⚠