CLPP — 222 ClinVar variants
All ClinVar germline CLPP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
12 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 25 Benign · 4 Benign/Likely benign · 95 Likely benign · 72 Uncertain significance
Full CLPP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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.
-
CLPP p.Ile208Met
Pathogenic
No assertion criteria
Perrault syndrome 3
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLPP p.Ala10Gly Uncertain significance Multiple submitters
-
CLPP p.Ala10Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Ala128Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Ala43Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Ala50Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Arg174Cys
Uncertain significance
Multiple submitters
Perrault syndrome 3
- CLPP p.Arg228His Uncertain significance Multiple submitters
-
CLPP p.Gly8Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CLPP p.His178Arg Uncertain significance Multiple submitters
-
CLPP p.Leu58Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CLPP p.Tyr73Cys Uncertain significance Multiple submitters
-
CLPP p.Val264Ala
Uncertain significance
Multiple submitters
Perrault syndrome 3
-
CLPP p.Ala161Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Ala26Ser Uncertain significance Single submitter
-
CLPP p.Ala43Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Arg174His Uncertain significance Single submitter
-
CLPP p.Arg185Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Arg32Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Arg36Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Arg83Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Cys15Arg Uncertain significance Single submitter
-
CLPP p.Gln150His
Uncertain significance
Single submitter
Perrault syndrome 3
- CLPP p.Gln31His Uncertain significance Single submitter
- CLPP p.Gly252Ser Uncertain significance Single submitter
- CLPP p.Gly41Arg Uncertain significance Single submitter
-
CLPP p.Gly41Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Gly8Val Uncertain significance Single submitter
- CLPP p.His27Tyr Uncertain significance Single submitter
- CLPP p.Ile115Phe Uncertain significance Single submitter
- CLPP p.Ile132Thr Uncertain significance Single submitter
-
CLPP p.Ile139Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Ile61Thr Uncertain significance Single submitter
- CLPP p.Leu38Pro Uncertain significance Single submitter
- CLPP p.Lys200Glu Uncertain significance Single submitter
-
CLPP p.Lys243Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Met166Thr Uncertain significance Single submitter
- CLPP p.Met199Val Uncertain significance Single submitter
-
CLPP p.Met230Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Met233Val Uncertain significance Single submitter
-
CLPP p.Met88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Pro122Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Pro122Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Pro248Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Pro29Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Pro29Ser Uncertain significance Single submitter
- CLPP p.Pro34Leu Uncertain significance Single submitter
-
CLPP p.Ser153Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Thr257Met Uncertain significance Single submitter
-
CLPP p.Trp2Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Val246Ala Uncertain significance Single submitter
-
CLPP p.Ile119Val
Uncertain significance
No assertion criteria
CLPP-related disorder
Predictors split 19
The independent predictors disagree with each other — read with care.
- CLPP p.Ala223Thr Uncertain significance Multiple submitters
-
CLPP p.Arg185Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Ile208Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Lys243Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Pro57Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Val148Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CLPP p.Ala184Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Ala267Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Ala72Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Arg11Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Arg185Leu Uncertain significance Single submitter
- CLPP p.Arg46Leu Uncertain significance Single submitter
-
CLPP p.Glu82Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CLPP p.Gly4Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Ile240Met Uncertain significance Single submitter
-
CLPP p.Leu158Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CLPP p.Leu24Phe Uncertain significance Single submitter
-
CLPP p.Pro114Ser
Conflicting
Single submitter
Inborn genetic diseases
- CLPP p.Tyr206Cys Uncertain significance Single submitter
All CLPP variants
Pathogenic 12
- p.Ala10fs Multiple submitters Perrault syndrome 3
- c.367+2T>C Single submitter
- p.Asp134fs Single submitter Perrault syndrome 1
- p.Glu196fs Single submitter
- p.Glu221Ter Single submitter Perrault syndrome 3
- p.Pro164fs Single submitter
- p.Ser110fs Single submitter Perrault syndrome 3
- p.Val12fs Single submitter
- c.270+4A>G No assertion criteria Autosomal recessive hearing impairment with normal menstrual cycles
- p.Cys147Ser No assertion criteria Perrault syndrome 3
- p.Ile208Met No assertion criteria Perrault syndrome 3 ⚠
- p.Thr145Pro No assertion criteria Perrault syndrome 3
Pathogenic/Likely pathogenic 1
- c.368-2A>G Multiple submitters Perrault syndrome 3
Likely pathogenic 9
- c.199-1G>C Single submitter
- c.661+2T>G Single submitter Perrault syndrome 3
- p.Arg78Pro Single submitter Perrault syndrome 3
- p.Asp134His Single submitter Perrault syndrome 3
- p.Glu221Lys Single submitter
- p.Gly162Ser Single submitter Perrault syndrome 3
- p.Ile100Thr Single submitter Perrault syndrome 3
- p.Met88Leu Single submitter Perrault syndrome 3
- c.-995_270+222del No assertion criteria Perrault syndrome 3
Conflicting classifications of pathogenicity 4
- p.Ile5Met Single submitter ⚠
- p.Leu58Arg Single submitter Perrault syndrome 3 ⚠
- p.Pro114Ser Single submitter Inborn genetic diseases ⚠
- p.Pro34Ser Single submitter ⚠
Benign 25
- c.199-31dup Multiple submitters Perrault syndrome 3
- c.270+161A>C Multiple submitters
- c.368-10C>T Multiple submitters
- c.555+3G>A Multiple submitters
- c.556-120C>T Multiple submitters
- c.556-39A>G Multiple submitters
- c.661+107G>A Multiple submitters
- c.-5G>A Multiple submitters Perrault syndrome 3
- c.*153C>G Multiple submitters
- p.Ala267= Multiple submitters
- p.Thr135= Multiple submitters
- c.270+25C>T Single submitter
- c.367+171C>T Single submitter
- c.367+234C>T Single submitter
- c.368-179G>T Single submitter
- c.368-297G>C Single submitter
- c.368-43G>T Single submitter
- c.555+107del Single submitter
- c.556-295del Single submitter
- c.556-295dup Single submitter
- c.556-43C>T Single submitter
- c.662-163T>C Single submitter
- c.662-274G>A Single submitter
- c.662-301T>G Single submitter
- p.Pro268= Single submitter
Benign/Likely benign 4
- c.368-8G>A Multiple submitters
- c.555+16G>A Multiple submitters Perrault syndrome 3
- p.Gln39= Multiple submitters
- p.Tyr133= Multiple submitters
Likely benign 95
- c.368-97G>T Multiple submitters
- c.555+15C>T Multiple submitters
- c.556-9G>A Multiple submitters
- c.661+119G>A Multiple submitters
- c.-7_-6insCC Multiple submitters
- c.*234G>A Multiple submitters
- c.*41G>A Multiple submitters
- p.Ala128= Multiple submitters
- p.Ala13= Multiple submitters
- p.Gln102= Multiple submitters
- p.Ser14= Multiple submitters
- c.198+11C>T Single submitter
- c.199-11T>G Single submitter
- c.199-15T>C Single submitter
- c.199-16A>G Single submitter
- c.199-16A>T Single submitter
- c.199-18C>T Single submitter
- c.199-4C>G Single submitter
- c.199-4C>T Single submitter
- c.199-9T>A Single submitter
- c.270+11C>T Single submitter
- c.270+12G>C Single submitter
- c.271-10C>T Single submitter
- c.271-8A>T Single submitter
- c.367+11T>A Single submitter
- c.367+148G>A Single submitter
- c.367+16C>G Single submitter
- c.367+17C>T Single submitter
- c.368-173C>T Single submitter
- c.368-44C>G Single submitter
- c.555+106_555+107del Single submitter
- c.555+107dup Single submitter
- c.555+17C>T Single submitter
- c.555+18G>A Single submitter
- c.555+246C>T Single submitter
- c.555+9C>G Single submitter
- c.556-10C>T Single submitter
- c.556-14_556-4del Single submitter
- c.556-238_556-235del Single submitter
- c.556-7C>T Single submitter
- c.661+11T>G Single submitter
- c.661+290T>G Single submitter
- c.661+41C>T Single submitter
- c.662-18C>T Single submitter
- c.662-278G>A Single submitter
- c.662-305T>C Single submitter
- c.662-4C>T Single submitter
- p.Ala10= Single submitter
- p.Ala160= Single submitter
- p.Ala52= Single submitter
- p.Ala72= Single submitter
- p.Arg11= Single submitter
- p.Arg228= Single submitter
- p.Arg78= Single submitter
- p.Asn120= Single submitter
- p.Asp242= Single submitter
- p.Asp251= Single submitter
- p.Cys147= Single submitter
- p.Gln107= Single submitter
- p.Gln236= Single submitter
- p.Gln250= Single submitter
- p.Glu237= Single submitter
- p.Gly123= Single submitter
- p.Gly124= Single submitter
- p.Gly183= Single submitter
- p.Gly67= Single submitter
- p.Ile100= Single submitter
- p.Ile191= Single submitter
- p.Ile208= Single submitter
- p.Ile59= Single submitter
- p.Ile75= Single submitter
- p.Ile84= Single submitter
- p.Ile91= Single submitter
- p.Leu20= Single submitter
- p.Leu205= Single submitter
- p.Leu6= Single submitter
- p.Leu80= Single submitter
- p.Phe105= Single submitter
- p.Pro114= Single submitter
- p.Pro171= Single submitter
- p.Pro3= Single submitter
- p.Pro33= Single submitter
- p.Ser121= Single submitter
- p.Ser169= Single submitter
- p.Ser222= Single submitter
- p.Ser276= Single submitter
- p.Ser94= Single submitter
- p.Thr127= Single submitter
- p.Thr257= Single submitter
- p.Thr51= Single submitter
- p.Thr53= Single submitter
- p.Tyr209= Single submitter
- p.Tyr229= Single submitter
- p.Val7= Single submitter
- p.Val99= Single submitter
Uncertain significance 72
- p.Ala10Gly Multiple submitters ⚠
- p.Ala10Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala128Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala223Thr Multiple submitters ⚠
- p.Ala43Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala50Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg174Cys Multiple submitters Perrault syndrome 3 ⚠
- p.Arg185Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg228His Multiple submitters ⚠
- p.Gly8Ala Multiple submitters Inborn genetic diseases ⚠
- p.His178Arg Multiple submitters ⚠
- p.Ile208Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu58Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys243Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro57Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr73Cys Multiple submitters ⚠
- p.Val148Met Multiple submitters Inborn genetic diseases ⚠
- p.Val264Ala Multiple submitters Perrault syndrome 3 ⚠
- c.662-3C>T Single submitter
- p.Ala161Thr Single submitter Inborn genetic diseases ⚠
- p.Ala184Thr Single submitter Inborn genetic diseases ⚠
- p.Ala267Val Single submitter Inborn genetic diseases ⚠
- p.Ala26Ser Single submitter ⚠
- p.Ala43Val Single submitter Inborn genetic diseases ⚠
- p.Ala72Ser Single submitter Inborn genetic diseases ⚠
- p.Arg11Trp Single submitter Inborn genetic diseases ⚠
- p.Arg174His Single submitter ⚠
- p.Arg185Gln Single submitter Inborn genetic diseases ⚠
- p.Arg185Leu Single submitter ⚠
- p.Arg32Trp Single submitter Inborn genetic diseases ⚠
- p.Arg36Gly Single submitter Inborn genetic diseases ⚠
- p.Arg46Leu Single submitter ⚠
- p.Arg83Cys Single submitter Inborn genetic diseases ⚠
- p.Cys15Arg Single submitter ⚠
- p.Gln150His Single submitter Perrault syndrome 3 ⚠
- p.Gln31His Single submitter ⚠
- p.Glu82Asp Single submitter Inborn genetic diseases ⚠
- p.Gly252Ser Single submitter ⚠
- p.Gly41Arg Single submitter ⚠
- p.Gly41Ser Single submitter Inborn genetic diseases ⚠
- p.Gly4Glu Single submitter Inborn genetic diseases ⚠
- p.Gly8Val Single submitter ⚠
- p.His212= Single submitter
- p.His27Tyr Single submitter ⚠
- p.Ile115Phe Single submitter ⚠
- p.Ile132Thr Single submitter ⚠
- p.Ile139Thr Single submitter Inborn genetic diseases ⚠
- p.Ile220= Single submitter
- p.Ile240Met Single submitter ⚠
- p.Ile61Thr Single submitter ⚠
- p.Leu158Ile Single submitter Inborn genetic diseases ⚠
- p.Leu24Phe Single submitter ⚠
- p.Leu38Pro Single submitter ⚠
- p.Lys200Glu Single submitter ⚠
- p.Lys243Gln Single submitter Inborn genetic diseases ⚠
- p.Met166Thr Single submitter ⚠
- p.Met199Val Single submitter ⚠
- p.Met230Ile Single submitter Inborn genetic diseases ⚠
- p.Met233Val Single submitter ⚠
- p.Met88Thr Single submitter Inborn genetic diseases ⚠
- p.Pro122Leu Single submitter Inborn genetic diseases ⚠
- p.Pro122Ser Single submitter Inborn genetic diseases ⚠
- p.Pro248Leu Single submitter Inborn genetic diseases ⚠
- p.Pro29Leu Single submitter Inborn genetic diseases ⚠
- p.Pro29Ser Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Ser153Ile Single submitter Inborn genetic diseases ⚠
- p.Thr257Met Single submitter ⚠
- p.Trp2Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr206Cys Single submitter ⚠
- p.Val246Ala Single submitter ⚠
- p.Ile119Val No assertion criteria CLPP-related disorder ⚠